I finally can get to editing and adding upon this section for the Gene Database after I found the GIANT collaborative project that was published back in one of the October editions in Nature magazine in 2010. This is the most comprehensive collection of gene that have at “significance” in height.
First, lets get through some terminology…
GIANT (Genetic Investigation of ANthropometric Traits consortium): is an international collaboration that seeks to identify genetic loci that modulate human body size and shape, including height and measures of obesity. The GIANT consortium is a collaboration between investigators from many different groups, institutions, countries, and studies, and the results represent their combined efforts. The primary approach has been meta-analysis of genome-wide association data and other large-scale genetic data sets. Anthropometric traits that have been studied by GIANT include body mass index (BMI), height, and traits related to waist circumference (such as waist-hip ratio adjusted for BMI, or WHRadjBMI). Thus far, the GIANT consortium has identified common genetic variants at hundreds of loci that are associated with anthropometric traits. (from Broad Institute website HERE)
SNP (Single Nucleotide Polymorphism): is a DNA sequence variation occurring when a single nucleotide — A, T, C or G — in the genome (or other shared sequence) differs between members of a biological species or paired chromosomes in an individual. (ie, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. In this case we say that there are two alleles: C and T). Almost all common SNPs have only two alleles (from wikipedia article on SNP here)
GWAs (Genomic-Wide Association studies): In genetic epidemiology, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an examination of many common genetic variants in different individuals to see if any variant is associated with a trait. GWAS typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major diseases. These studies normally compare the DNA of two groups of participants: people with the disease (cases) and similar people without (controls). Each person gives a sample of DNA, from which millions of genetic variants are read using SNP arrays. If one type of the variant (one allele) is more frequent in people with the disease, the SNP is said to be “associated” with the disease. The associated SNPs are then considered to mark a region of the human genome which influences the risk of disease. (from wikipedia article on GWAs here)
Nucleotide: molecules that, when joined, make up the individual structural units of the nucleic acids RNA and DNA.
Gene variation: variation in alleles of genes, occurs both within and among populations. Genetic variation is important because it provides the “raw material” for natural selection. Genetic variation is brought about by mutation, which is a change in the chemical structure of a gene. (from wiki)
Allele: one of two or more forms of a gene or a genetic locus (generally a group of genes). Sometimes, different alleles can result in different observable phenotypic traits, such as different pigmentation. However, many variations at the genetic level result in little or no observable variation. Most multicellular organisms have two sets of chromosomes, that is, they are diploid. These chromosomes are referred to as homologous chromosomes. Diploid organisms have one copy of each gene (and therefore one allele) on each chromosome. If both alleles are the same, they are homozygotes. If the alleles are different, they are heterozygotes. A population or species of organisms typically includes multiple alleles at each locus among various individuals. Allelic variation at a locus is measurable as the number of alleles (polymorphism) present, or the proportion of heterozygotes in the population. In many cases, genotypic interactions between the two alleles at a locus can be described as dominant or recessive, according to which of the two homozygous genotypes the phenotype of the heterozygote most resembles. Where the heterozygote is indistinguishable from one of the homozygotes, the allele involved is said to be dominant to the other, which is said to be recessive to the former. The degree and pattern of dominance varies among loci. For a further discussion see Dominance (genetics). This type of interaction was first formally described by Gregor Mendel. However, many traits defy this simple categorization and the phenotypes are modeled by polygenic inheritance. The term “wild type” allele is sometimes used to describe an allele that is thought to contribute to the typical phenotypic character as seen in “wild” populations of organisms…Such a “wild type” allele was historically regarded as dominant, common, and “normal”, in contrast to “mutant” alleles regarded as recessive, rare, and frequently deleterious. It was commonly thought that most individuals were homozygous for the “wild type” allele at most gene loci, and that any alternative ‘mutant’ allele was found in homozygous form in a small minority of “affected” individuals, often as genetic diseases, and more frequently in heterozygous form in “carriers” for the mutant allele. It is now appreciated that most or all gene loci are highly polymorphic, with multiple alleles, whose frequencies vary from population to population, and that a great deal of genetic variation is hidden in the form of alleles that do not produce obvious phenotypic differences. (from wikipedia article on allele HERE)
Loci (singular is Locus): is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map. Gene mapping is the procession of determining the locus for a particular biological trait. Diploid and polyploid cells whose chromosomes have the same allele of a given gene at some locus are called homozygous with respect to that gene, while those that have different alleles of a given gene at a locus, are called heterozygous with respect to that gene. (from wikipedia article on gene loci HERE)
Gene: is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a polypeptide or for an RNA chain that has a function in the organism. A modern working definition of a gene is “a locatable region of genomic sequence, corresponding to a unit of inheritance, which is associated with regulatory regions, transcribed regions, and or other functional sequence regions “. Colloquial usage of the term gene (e.g. “good genes”, “hair color gene”) may actually refer to an allele: a gene is the basic instruction—a sequence of nucleic acids (DNA or, in the case of certain viruses RNA), while anallele is one variant of that gene. Referring to having a gene for a trait is no longer the scientifically accepted usage. In most cases, all people would have a gene for the trait in question, but certain people will have a specific allele of that gene, which results in the trait variant. Further, genes code for proteins, which might result in identifiable traits, but it is the gene, not the trait, which is inherited. (from the wikipedia article on gene HERE)
Minor Allele Frequency (MAF): refers to the frequency at which the less common allele occurs in a given population. MAF is widely employed in Genome Wide Association studies for complex traits. (from wikipedia article on MAF HERE)
Now let’s get through how gene locus nomenclature is done…
(the segment/pic clip posted below is taken from the wikipedia article on genetics loci above HERE)
Also Understand the Results And Measurements (specifically the P-value)…
What is P-value? – In statistical hypothesis testing, the p-value is the probability of obtaining a test statistic at least as extreme as the one that was actually observed, assuming that the null hypothesis is true. One often “rejects the null hypothesis” when the p-value is less than the significance level α (Greek alpha), which is often 0.05 or 0.01. When the null hypothesis is rejected, the result is said to be statistically significant. (from wikipedia)
Note: For a far better and more detailed explanation of what exactly is the P-value please refer to the notes from a University of Alberta Stats class located HERE.
What does it mean to be “statistically significant”?
It has become scientific convention to say that p-values exceeding 0.05 (one in twenty) just aren’t strong enough to be the sole evidence that two treatments
being studied really differ in their effect. When the term statistically signicant is used to describe the results from a clinical trial, it means that the p-value is less than this conventional reference point. It is possible to have very strong evidence to show that even a very small effect is nonetheless a real one. Consequently, it is possible to have a small p-value even though the size of the effect is not worth bothering with from the 5clinical standpoint. Thus, statistical signicance and clinical importance must be completely separate assessments.
Even when one treatment is superior to another in clinically important ways, it is possible for the study not to end in statistical signicance. The study may have been too small to detect any but the largest of dierences. And of coursechance can work against a treatment as easily as work in its favor. Consequently, not achieving statistical signicance must not be interpreted as having shown that the treatments studied are equally effective. (from University of Chicago Document HERE)
List Of Genes
[Note: This list of genes that have a “significant” influence on height variation was all taken from the Supplementary Material from the GIANT project.]
Analysis 1 (from GIANT article)
If you can see close enough, you can see that there was 42 single nucleotide polymorphisms associated in the circular diagram above. As stated in the original article found HERE…
“This analysis revealed 17 different biological pathways and 14 molecular functions nominally enriched (P<0.05) for associated genes, many of which lie within the validated height loci. These gene-sets include previously reported (e.g. Hedgehog signaling) and novel (e.g. TGF-beta signaling, histones, and growth and development-related) pathways and molecular functions (Supplementary Table 12). Several SNPs near genes in these pathways narrowly missed genome-wide significance, suggesting that these pathways likely contain additional associated variants.”
also
“Of 32 genes with highly correlated (r2>0.8) nsSNPs, several are newly identified strong candidates for playing a role in human growth. Some are in pathways enriched in our study (such as ECM2, implicated in extracellular matrix), while others have similar functions to known growth-related genes, including FGFR4 (FGFR3 underlies several classic skeletal dysplasias23) and STAT2 (STAT5B mutations cause growth defects in humans24). Interestingly, Fgfr4-/- Fgfr3-/- mice show severe growth retardation not seen in either single mutant25, suggesting that the FGFR4 variant might modify FGFR3-mediated skeletal dysplasias. Other genes at associated loci, such as NPPC and NPR3 (encoding the C-type natriuretic peptide and its receptor), influence skeletal growth in mice and will likely also influence human growth17. Many of the remaining 180 loci have no genes with obvious connections to growth biology, but at some our data provide modest supporting evidence for particular genes…”
COMPLETE LISTING – 180 gene loci at present
[Note: All the tables, graphs, and charts are edited and taken from the Supplementary Document for the GIANT article located HERE.]
Supplementary Table 1. Association results for Stage 1 (discovery GWAS), Stage 2 (in-silico replication), Stage 1+2 combined, and Stage 1+2 sex-specific meta-analyses, for the 180 independent signals that reached genome-wide significance (P<5×10-8) in the combined Stage 1+2 analysis. I2 represents the % heterogeneity of effect size between Stage 1 studies. Phet is the heterogeneity P-value.
SNP a | Chr | Position (bp) | Nearest/OMIM height gene b | Effect / other allele c | Frequency (effect allele) | Beta | P-value d | Phet (MvsF) |
rs425277 | 1 | 2059032 | PRKCZ | T/C | 0.28 | 0.024 | 1.70E-006 | 0.15 |
rs2284746 | 1 | 17179262 | MFAP2 | C/G | 0.48 | -0.035 | 5.60E-015 | 0.76 |
rs1738475 | 1 | 23409478 | HTR1D | C/G | 0.59 | 0.022 | 1.90E-006 | 0.25 |
rs4601530 | 1 | 24916698 | CLIC4 | T/C | 0.26 | -0.024 | 2.00E-006 | 0.47 |
rs7532866 | 1 | 26614131 | LIN28 | A/G | 0.67 | 0.022 | 3.30E-006 | 0.23 |
rs2154319 | 1 | 41518357 | SCMH1 | T/C | 0.75 | -0.034 | 4.30E-010 | 0.13 |
rs17391694 | 1 | 78396214 | GIPC2 | T/C | 0.12 | 0.04 | 5.90E-007 | 0.95 |
rs6699417 | 1 | 88896031 | PKN2 | T/C | 0.61 | 0.022 | 1.70E-006 | 0.99 |
rs10874746 | 1 | 93096559 | RPL5 | T/C | 0.37 | -0.022 | 1.70E-006 | 0.78 |
rs9428104 | 1 | 118657110 | SPAG17 | A/G | 0.24 | -0.038 | 8.90E-013 | 0.55 |
rs11205277 | 1 | 148159496 | SF3B4 | A/G | 0.58 | -0.045 | 1.20E-018 | 0.36 |
rs17346452 | 1 | 170319910 | DNM3 | T/C | 0.73 | -0.038 | 3.30E-014 | 0.56 |
rs1325598 | 1 | 175058872 | PAPPA2 | A/G | 0.43 | -0.026 | 1.60E-008 | 0.52 |
rs1046934 | 1 | 182290152 | TSEN15 | A/C | 0.64 | -0.046 | 6.40E-022 | 0.94 |
rs10863936 | 1 | 210304421 | DTL | A/G | 0.53 | -0.022 | 6.20E-007 | 0.06 |
rs6684205 | 1 | 216676325 | TGFB2 | A/G | 0.71 | -0.033 | 2.00E-011 | 0.41 |
rs11118346 | 1 | 217810342 | LYPLAL1 | T/C | 0.47 | -0.026 | 2.20E-009 | 0.05 |
rs10799445 | 1 | 225978506 | JMJD4 | A/C | 0.77 | 0.031 | 1.20E-008 | 0.21 |
rs4665736 | 2 | 25041103 | DNAJC27 | T/C | 0.54 | 0.034 | 1.40E-013 | 0.08 |
rs6714546 | 2 | 33214929 | LTBP1 | A/G | 0.28 | -0.025 | 2.20E-006 | 0.19 |
rs17511102 | 2 | 37814117 | CDC42EP3 | A/T | 0.91 | -0.06 | 1.30E-012 | 0.9 |
rs2341459 | 2 | 44621706 | C2orf34 | T/C | 0.27 | 0.028 | 3.60E-008 | 0.14 |
rs12474201 | 2 | 46774789 | SOCS5 | A/G | 0.35 | 0.023 | 1.00E-006 | 0.78 |
rs3791675 | 2 | 55964813 | EFEMP1 | T/C | 0.23 | -0.05 | 2.40E-020 | 0.71 |
rs11684404 | 2 | 88705737 | EIF2AK3 | T/C | 0.67 | -0.027 | 6.40E-009 | 0.46 |
rs7567288 | 2 | 134151294 | NCKAP5 | T/C | 0.8 | -0.031 | 6.70E-008 | 0.6 |
rs7567851 | 2 | 178392966 | PDE11A | C/G | 0.08 | 0.041 | 7.50E-007 | 0.7 |
rs1351164 | 2 | 217980143 | TNS1 | T/C | 0.79 | 0.028 | 3.70E-007 | 0.83 |
rs12470505 | 2 | 219616613 | CCDC108/IHH | T/G | 0.9 | 0.048 | 1.30E-010 | 0.01 |
rs2629046 | 2 | 224755988 | SERPINE2 | T/C | 0.55 | 0.025 | 2.20E-008 | 0.2 |
rs2580816 | 2 | 232506210 | NPPC | T/C | 0.19 | -0.041 | 1.80E-012 | 0.23 |
rs12694997 | 2 | 241911659 | SEPT2 | A/G | 0.24 | -0.027 | 1.80E-007 | 0.61 |
rs2597513 | 3 | 13530836 | HDAC11 | T/C | 0.9 | -0.039 | 1.10E-007 | 0.83 |
rs13088462 | 3 | 51046753 | DOCK3 | T/C | 0.94 | -0.054 | 3.10E-007 | 0.56 |
rs2336725 | 3 | 53093779 | RTF1 | T/C | 0.55 | -0.026 | 3.50E-008 | 0.85 |
rs9835332 | 3 | 56642722 | C3orf63 | C/G | 0.46 | -0.022 | 8.70E-007 | 0.91 |
rs17806888 | 3 | 67499012 | SUCLG2 | T/C | 0.88 | 0.04 | 1.10E-007 | 0.93 |
rs9863706 | 3 | 72520103 | RYBP | T/C | 0.22 | -0.03 | 1.50E-008 | 0.6 |
rs6439167 | 3 | 130533446 | C3orf47 | T/C | 0.21 | -0.034 | 7.20E-010 | 0.09 |
rs9844666 | 3 | 137456906 | PCCB | A/G | 0.25 | -0.028 | 3.10E-008 | 0.09 |
rs724016 | 3 | 142588260 | ZBTB38 | A/G | 0.56 | -0.067 | 4.50E-052 | 0.42 |
rs572169 | 3 | 173648421 | GHSR | T/C | 0.31 | 0.036 | 9.90E-014 | 0.4 |
rs720390 | 3 | 187031377 | IGF2BP2 | A/G | 0.39 | 0.031 | 1.60E-010 | 0.14 |
rs2247341 | 4 | 1671115 | SLBP/FGFR3 | A/G | 0.36 | 0.025 | 6.80E-008 | 0.67 |
rs6449353 | 4 | 17642586 | LCORL | T/C | 0.85 | 0.071 | 1.30E-027 | 0.88 |
rs17081935 | 4 | 57518233 | POLR2B | T/C | 0.2 | 0.031 | 4.80E-008 | 0.09 |
rs7697556 | 4 | 73734177 | ADAMTS3 | T/C | 0.47 | 0.022 | 1.30E-006 | 0.56 |
rs788867 | 4 | 82369030 | PRKG2/BMP3 | T/G | 0.68 | -0.039 | 1.80E-015 | 0.95 |
rs10010325 | 4 | 106325802 | TET2 | A/C | 0.49 | 0.021 | 2.30E-006 | 0.64 |
rs7689420 | 4 | 145787802 | HHIP | T/C | 0.16 | -0.069 | 1.40E-029 | 0.61 |
rs955748 | 4 | 184452669 | WWC2 | A/G | 0.24 | -0.024 | 2.20E-006 | 0.29 |
rs1173727 | 5 | 32866278 | NPR3 | T/C | 0.4 | 0.036 | 4.00E-015 | 0.27 |
rs11958779 | 5 | 55037656 | SLC38A9 | A/G | 0.7 | -0.028 | 8.00E-009 | 0.8 |
rs10037512 | 5 | 88390431 | MEF2C | T/C | 0.56 | 0.027 | 3.80E-009 | 0.3 |
rs13177718 | 5 | 108141243 | FER | T/C | 0.07 | -0.041 | 4.10E-006 | 0.16 |
rs1582931 | 5 | 122685098 | CEP120 | A/G | 0.47 | -0.025 | 2.10E-008 | 0.31 |
rs274546 | 5 | 131727766 | SLC22A5 | A/G | 0.4 | -0.028 | 8.50E-010 | 0.13 |
rs526896 | 5 | 134384604 | PITX1 | T/G | 0.73 | 0.032 | 1.90E-009 | 0.15 |
rs4282339 | 5 | 168188818 | SLIT3 | A/G | 0.2 | -0.035 | 3.40E-010 | 0.69 |
rs12153391 | 5 | 171136043 | FBXW11 | A/C | 0.25 | -0.033 | 8.70E-010 | 0.57 |
rs889014 | 5 | 172916720 | BOD1 | T/C | 0.36 | -0.029 | 4.50E-010 | 0.51 |
rs422421 | 5 | 176449932 | FGFR4/NSD1 | T/C | 0.22 | -0.033 | 1.40E-009 | 0.64 |
rs6879260 | 5 | 179663620 | GFPT2 | T/C | 0.39 | -0.028 | 5.60E-010 | 0.41 |
rs3812163 | 6 | 7670759 | BMP6 | A/T | 0.54 | -0.037 | 6.70E-016 | 0.36 |
rs1047014 | 6 | 19949472 | ID4 | T/C | 0.75 | -0.029 | 1.10E-007 | 0.9 |
rs806794 | 6 | 26308656 | Histone cluster | A/G | 0.7 | 0.053 | 5.50E-026 | 0.12 |
rs3129109 | 6 | 29192211 | OR2J3 | T/C | 0.39 | -0.026 | 3.30E-008 | 0.64 |
rs2256183 | 6 | 31488508 | MICA | A/G | 0.45 | 0.035 | 2.70E-014 | 0.43 |
rs6457620 | 6 | 32771977 | HLA locus | C/G | 0.51 | -0.024 | 3.60E-008 | 0.81 |
rs2780226 | 6 | 34307070 | HMGA1 | T/C | 0.92 | -0.079 | 1.00E-018 | 0.96 |
rs6457821 | 6 | 35510783 | PPARD/FANCE | A/C | 0.02 | -0.121 | 1.80E-011 | 0.29 |
rs9472414 | 6 | 45054484 | SUPT3H/RUNX2 | A/T | 0.22 | -0.031 | 2.40E-008 | 0.66 |
rs9360921 | 6 | 76322362 | SENP6 | T/G | 0.89 | -0.048 | 4.60E-011 | 0.62 |
rs310405 | 6 | 81857081 | FAM46A | A/G | 0.52 | 0.03 | 3.60E-011 | 0.25 |
rs7759938 | 6 | 105485647 | LIN28B | T/C | 0.68 | -0.042 | 8.70E-018 | 0.26 |
rs1046943 | 6 | 109890634 | ZBTB24 | A/G | 0.58 | 0.022 | 8.60E-007 | 0.46 |
rs961764 | 6 | 117628849 | VGLL2 | C/G | 0.42 | -0.023 | 2.40E-007 | 0.79 |
rs1490384 | 6 | 126892853 | C6orf173 | T/C | 0.5 | 0.037 | 3.20E-016 | 0.55 |
rs6569648 | 6 | 130390812 | L3MBTL3 | T/C | 0.76 | -0.036 | 8.90E-012 | 0.14 |
rs7763064 | 6 | 142838982 | GPR126 | A/G | 0.29 | -0.045 | 6.40E-019 | 0.29 |
rs543650 | 6 | 152152636 | ESR1 | T/G | 0.4 | -0.032 | 1.40E-009 | 0.36 |
rs9456307 | 6 | 158849430 | TULP4 | A/T | 0.06 | -0.05 | 4.60E-007 | 0.38 |
rs798489 | 7 | 2768329 | GNA12 | T/C | 0.3 | -0.052 | 8.50E-025 | 0.53 |
rs4470914 | 7 | 19583047 | TWISTNB | T/C | 0.18 | 0.033 | 3.80E-008 | 0.93 |
rs12534093 | 7 | 23469499 | IGF2BP3 | A/T | 0.22 | -0.03 | 5.60E-008 | 0.84 |
rs1708299 | 7 | 28156471 | JAZF1 | A/G | 0.3 | 0.042 | 1.50E-017 | 0.25 |
rs6959212 | 7 | 38094851 | STARD3NL | T/C | 0.32 | -0.023 | 2.80E-006 | 0.66 |
rs42235 | 7 | 92086012 | CDK6 | T/C | 0.31 | 0.055 | 7.30E-028 | 0.01 |
rs822552 | 7 | 148281567 | PDIA4 | C/G | 0.74 | -0.03 | 1.30E-007 | 0.24 |
rs2110001 | 7 | 150147955 | TMEM176A | C/G | 0.69 | -0.033 | 9.80E-010 | 0.71 |
rs1013209 | 8 | 24172249 | ADAM28 | T/C | 0.25 | -0.029 | 4.50E-008 | 0.95 |
rs7460090 | 8 | 57356717 | SDR16C5 | T/C | 0.87 | 0.055 | 9.60E-016 | 0.16 |
rs6473015 | 8 | 78341040 | PEX2 | A/C | 0.72 | -0.032 | 1.70E-010 | 0.84 |
rs6470764 | 8 | 130794847 | GSDMC | T/C | 0.2 | -0.047 | 5.90E-017 | 0.95 |
rs12680655 | 8 | 135706519 | ZFAT | C/G | 0.6 | 0.03 | 4.80E-011 | 0.45 |
rs7864648 | 9 | 16358732 | BNC2 | T/G | 0.32 | 0.025 | 4.90E-007 | 0.23 |
rs11144688 | 9 | 77732106 | PCSK5 | A/G | 0.11 | -0.055 | 1.50E-009 | 0.28 |
rs7853377 | 9 | 85742025 | C9orf64 | A/G | 0.77 | -0.026 | 3.10E-006 | 0.26 |
rs8181166 | 9 | 88306448 | ZCCHC6 | C/G | 0.53 | 0.025 | 1.10E-007 | 0.07 |
rs2778031 | 9 | 90025546 | SPIN1 | T/C | 0.24 | 0.027 | 3.60E-007 | 0.78 |
rs9969804 | 9 | 94468941 | IPPK | A/C | 0.44 | 0.028 | 5.60E-010 | 0.92 |
rs1257763 | 9 | 95933766 | PTPDC1 | A/G | 0.04 | 0.069 | 2.50E-006 | 0.55 |
rs473902 | 9 | 97296056 | PTCH1/FANCC | T/G | 0.92 | 0.074 | 1.70E-014 | 0.62 |
rs7027110 | 9 | 108638867 | ZNF462 | A/G | 0.23 | 0.034 | 1.30E-010 | 0.72 |
rs1468758 | 9 | 112846903 | LPAR1 | T/C | 0.25 | -0.026 | 1.50E-006 | 0.24 |
rs751543 | 9 | 118162163 | PAPPA | T/C | 0.72 | 0.029 | 4.50E-008 | 0.89 |
rs7466269 | 9 | 132453905 | FUBP3 | A/G | 0.64 | 0.036 | 1.20E-014 | 0.92 |
rs7849585 | 9 | 138251691 | QSOX2 | T/G | 0.33 | 0.032 | 3.40E-011 | 0.69 |
rs7909670 | 10 | 12958770 | CCDC3 | T/C | 0.44 | -0.022 | 1.30E-006 | 0.06 |
rs2145998 | 10 | 80791702 | PPIF | A/T | 0.49 | -0.025 | 2.70E-008 | 0.68 |
rs11599750 | 10 | 101795432 | CPN1 | T/C | 0.38 | -0.023 | 7.60E-007 | 0.32 |
rs2237886 | 11 | 2767307 | KCNQ1 | T/C | 0.11 | 0.043 | 3.10E-008 | 0.25 |
rs7926971 | 11 | 12654616 | TEAD1 | A/G | 0.55 | -0.024 | 7.30E-008 | 0.4 |
rs1330 | 11 | 17272605 | NUCB2 | T/C | 0.35 | 0.024 | 4.40E-007 | 0.56 |
rs10838801 | 11 | 48054856 | PTPRJ/SLC39A13 | A/G | 0.69 | -0.031 | 1.80E-010 | 0.27 |
rs1814175 | 11 | 49515748 | FOLH1 | T/C | 0.34 | 0.023 | 2.60E-006 | 0.13 |
rs5017948 | 11 | 51270794 | OR4A5 | A/T | 0.18 | 0.027 | 4.70E-006 | 0.02 |
rs3782089 | 11 | 65093395 | SSSCA1 | T/C | 0.06 | -0.058 | 5.90E-009 | 0.13 |
rs7112925 | 11 | 66582736 | RHOD | T/C | 0.35 | -0.023 | 8.50E-007 | 0.57 |
rs634552 | 11 | 74959700 | SERPINH1 | T/G | 0.14 | 0.041 | 1.40E-009 | 0.69 |
rs494459 | 11 | 118079885 | TREH | T/C | 0.41 | 0.021 | 4.90E-006 | 0.5 |
rs654723 | 11 | 128091365 | FLI1 | A/C | 0.62 | 0.024 | 6.70E-007 | 0.82 |
rs2856321 | 12 | 11747040 | ETV6 | A/G | 0.64 | -0.03 | 1.50E-010 | 0.83 |
rs10770705 | 12 | 20748734 | SLCO1C1 | A/C | 0.33 | 0.031 | 4.60E-011 | 0.77 |
rs2638953 | 12 | 28425682 | CCDC91 | C/G | 0.68 | 0.036 | 8.40E-014 | 0.04 |
rs2066807 | 12 | 55026949 | STAT2 | C/G | 0.93 | -0.052 | 9.60E-009 | 0.49 |
rs1351394 | 12 | 64638093 | HMGA2 | T/C | 0.49 | 0.054 | 7.80E-034 | 0.14 |
rs10748128 | 12 | 68113925 | FRS2 | T/G | 0.35 | 0.035 | 3.80E-011 | 0.23 |
rs11107116 | 12 | 92502635 | SOCS2 | T/G | 0.22 | 0.052 | 1.70E-023 | 0.1 |
rs7971536 | 12 | 100897919 | CCDC53/GNPTAB | A/T | 0.46 | -0.025 | 1.10E-007 | 0.75 |
rs11830103 | 12 | 122389499 | SBNO1 | A/G | 0.78 | -0.035 | 3.80E-010 | 0.27 |
rs7332115 | 13 | 32045548 | PDS5B/BRCA2 | T/G | 0.62 | -0.025 | 7.60E-008 | 0.37 |
rs3118905 | 13 | 50003335 | DLEU7 | A/G | 0.29 | -0.052 | 3.00E-025 | 0.15 |
rs7319045 | 13 | 90822575 | GPC5 | A/G | 0.4 | 0.029 | 4.50E-010 | 0.6 |
rs1950500 | 14 | 23900690 | NFATC4 | T/C | 0.29 | 0.032 | 3.90E-011 | 0.32 |
rs2093210 | 14 | 60027032 | SIX6 | T/C | 0.58 | -0.034 | 2.30E-012 | 0.23 |
rs1570106 | 14 | 67882868 | RAD51L1 | T/C | 0.2 | -0.026 | 4.90E-006 | 0.67 |
rs862034 | 14 | 74060499 | LTBP2 | A/G | 0.36 | -0.023 | 1.10E-006 | 0.24 |
rs7155279 | 14 | 91555634 | TRIP11 | T/G | 0.36 | -0.029 | 8.90E-010 | 0.38 |
rs16964211 | 15 | 49317787 | CYP19A1 | A/G | 0.05 | -0.051 | 2.50E-006 | 0.04 |
rs7178424 | 15 | 60167551 | C2CD4A | T/C | 0.47 | -0.024 | 2.20E-007 | 0.88 |
rs10152591 | 15 | 67835211 | TLE3 | A/C | 0.91 | 0.045 | 3.50E-008 | 0.28 |
rs12902421 | 15 | 69948457 | MYO9A | T/C | 0.97 | -0.069 | 1.70E-006 | 0.25 |
rs5742915 | 15 | 72123686 | PML | T/C | 0.54 | -0.031 | 3.00E-010 | 0.08 |
rs11259936 | 15 | 82371586 | ADAMTSL3 | A/C | 0.48 | -0.042 | 2.20E-021 | 0.03 |
rs16942341 | 15 | 87189909 | ACAN | T/C | 0.03 | -0.134 | 1.30E-017 | 0.43 |
rs2871865 | 15 | 97012419 | IGF1R | C/G | 0.88 | 0.054 | 1.10E-012 | 0.54 |
rs4965598 | 15 | 98577137 | ADAMTS17 | T/C | 0.68 | -0.035 | 1.40E-013 | 0.21 |
rs11648796 | 16 | 732191 | NARFL | A/G | 0.74 | -0.031 | 2.40E-007 | 0.71 |
rs26868 | 16 | 2189377 | CASKIN1 | A/T | 0.46 | 0.03 | 3.50E-008 | 0.73 |
rs1659127 | 16 | 14295806 | MKL2 | A/G | 0.34 | 0.024 | 2.90E-006 | 0.7 |
rs8052560 | 16 | 87304743 | CTU2/GALNS | A/C | 0.79 | 0.039 | 1.40E-008 | 0.47 |
rs4640244 | 17 | 21224816 | KCNJ12 | A/G | 0.61 | 0.028 | 2.00E-007 | 0.78 |
rs3110496 | 17 | 24941897 | ANKRD13B | A/G | 0.33 | -0.023 | 1.60E-006 | 0.04 |
rs3764419 | 17 | 26188149 | ATAD5/RNF135 | A/C | 0.39 | -0.037 | 8.90E-016 | 0.67 |
rs17780086 | 17 | 27367395 | LRRC37B | A/G | 0.15 | 0.035 | 4.40E-008 | 0.85 |
rs1043515 | 17 | 34175722 | PIP4K2B | A/G | 0.45 | -0.022 | 1.30E-006 | 0.15 |
rs4986172 | 17 | 40571807 | ACBD4 | T/C | 0.35 | -0.028 | 7.10E-009 | 0.41 |
rs2072153 | 17 | 44745013 | ZNF652 | C/G | 0.3 | 0.026 | 6.70E-008 | 0.03 |
rs4605213 | 17 | 46599746 | NME2 | C/G | 0.34 | 0.023 | 9.30E-007 | 0.21 |
rs227724 | 17 | 52133816 | NOG | A/T | 0.65 | -0.027 | 1.20E-008 | 0.2 |
rs2079795 | 17 | 56851431 | TBX2 | T/C | 0.33 | 0.04 | 1.20E-016 | 0.12 |
rs2665838 | 17 | 59320197 | CSH1/GH1 | C/G | 0.73 | -0.037 | 2.00E-013 | 0.92 |
rs11867479 | 17 | 65601802 | KCNJ16/KCNJ2 | T/C | 0.34 | 0.024 | 4.90E-007 | 0.68 |
rs4800452 | 18 | 18981609 | CABLES1 | T/C | 0.79 | 0.048 | 2.40E-017 | 0.8 |
rs9967417 | 18 | 45213498 | DYM | C/G | 0.58 | -0.038 | 2.60E-016 | 0.44 |
rs17782313 | 18 | 56002077 | MC4R | T/C | 0.76 | -0.025 | 3.50E-006 | 0.55 |
rs12982744 | 19 | 2128193 | DOT1L | C/G | 0.6 | -0.033 | 2.80E-012 | 0.6 |
rs7507204 | 19 | 3379834 | NFIC | C/G | 0.24 | 0.028 | 2.30E-007 | 0.05 |
rs891088 | 19 | 7135762 | INSR | A/G | 0.74 | -0.025 | 1.70E-006 | 0.45 |
rs4072910 | 19 | 8550031 | ADAMTS10 | C/G | 0.46 | -0.029 | 2.50E-007 | 0.31 |
rs2279008 | 19 | 17144303 | MYO9B | T/C | 0.74 | 0.031 | 2.40E-007 | 0.48 |
rs17318596 | 19 | 46628935 | ATP5SL | A/G | 0.36 | 0.029 | 3.00E-009 | 0.01 |
rs1741344 | 20 | 4049800 | SMOX | T/C | 0.63 | -0.026 | 3.50E-008 | 0.55 |
rs2145272 | 20 | 6574218 | BMP2 | A/G | 0.65 | -0.039 | 5.90E-016 | 0.85 |
rs7274811 | 20 | 31796842 | ZNF341 | T/G | 0.23 | -0.04 | 6.80E-014 | 0.52 |
rs143384 | 20 | 33489170 | GDF5 | A/G | 0.58 | -0.064 | 4.90E-039 | 0.47 |
rs237743 | 20 | 47336426 | ZNFX1 | A/G | 0.21 | 0.034 | 7.20E-010 | 0.28 |
rs2834442 | 21 | 34612656 | KCNE2 | A/T | 0.65 | 0.027 | 7.30E-009 | 0.9 |
rs4821083 | 22 | 31386341 | SYN3 | T/C | 0.84 | 0.033 | 4.80E-008 | 0.41 |
- a SNPs most likely to be representing a previously published height locus are highlighted in green.
- b Gene regions are named after the gene nearest to the index SNP. A near-by (within 500kb from the index SNP) OMIM height gene (defined as a gene that when mutated results in a monogenic skeletal growth defect) is also included if it is not the nearest. All OMIM height genes are highlighted in blue.
- c Alleles are indexed to the forward strand of NCBI Build 36.
- d All p-values are based on the inverse-variance weighted meta-analysis model (fixed effects).
Supplementary Table 10. List of 241 abnormal skeletal/growth genes identified in the OMIM database (http://www.ncbi.nlm.nih.gov/omim) using the following keywords: short stature, overgrowth, skeletal dysplasia, brachydactyly, and manually curating the list blind to GIANT height results.
ACAN | COL9A3 | GJA1 | NEU1 | SIL1 |
ADAMTS10 | COMP | GLB1 | NF1 | SLC26A2 |
ADAMTS2 | CRTAP | GLI3 | NIPBL | SLC29A3 |
ADAMTSL2 | CTDP1 | GNAS | NOG | SLC2A2 |
AGPS | CTSK | GNPAT | NPR2 | SLC34A3 |
ALG12 | CUL4B | GNPTAB | NSD1 | SLC35C1 |
ALMS1 | CUL7 | GPC3 | OCRL | SLC35D1 |
ALPL | CYP11B1 | GUSB | OFD1 | SLC37A4 |
ANKH | CYP19A1 | HCCS | PAPSS2 | SLC39A13 |
ARL6 | CYP21A2 | HESX1 | PAX3 | SLC4A4 |
ARSB | CYP27B1 | HMGA2 | PAX8 | SLC6A8 |
ARSE | DHCR7 | HOXD13 | PCNT | SMARCAL1 |
ATP6V0A2 | DYM | HPRT1 | PEX7 | SMC1A |
ATP7A | EBP | HRAS | PHEX | SMC3 |
ATP8B1 | EFNB1 | HSPG2 | PHF6 | SMPD1 |
ATR | EIF2AK3 | HYAL1 | PITX2 | SMS |
ATRX | ERCC2 | ICK | POU1F1 | SOS1 |
B3GALTL | ERCC3 | IDUA | PQBP1 | SOST |
B4GALT7 | ESCO2 | IFT80 | PROP1 | SOX3 |
BBS1 | EVC | IGBP1 | PTCH1 | SPG20 |
BBS10 | EVC2 | IGF1 | PTCH2 | SRY |
BBS12 | EXT1 | IGF1R | PTEN | STAT5B |
BBS2 | EXT2 | IGF2 | PTH1R | TAZ |
BBS4 | FANCA | IHH | PTPN11 | TBCE |
BBS5 | FANCB | IKBKG | RAB23 | TBX1 |
BBS7 | FANCC | JAG1 | RAB3GAP1 | TBX15 |
BBS9 | FANCD2 | KCNJ2 | RAB3GAP2 | TCF4 |
BMPR1B | FANCE | KDM5C | RAF1 | TGFBR1 |
BRAF | FANCF | KIAA1279 | RAI1 | TGFBR2 |
BRCA2 | FANCG | KRAS | RBM28 | THRB |
BTK | FANCI | LBR | RECQL4 | TNFRSF11B |
BUB1B | FANCL | LEMD3 | RMRP | TP63 |
C7orf11 | FANCM | LEPRE1 | RNF135 | TRAPPC2 |
CA2 | FBN1 | LHX4 | ROR2 | TRIM32 |
CCDC28B | FBN2 | LIFR | RPL11 | TRIM37 |
CEP290 | FGD1 | LIG4 | RPL35A | TRPS1 |
CHD7 | FGF23 | LMNA | RPL5 | TRPV4 |
CHRNG | FGFR2 | LRP5 | RPS17 | UBR1 |
CHST3 | FGFR3 | MAP2K1 | RPS19 | WNT7A |
CLCN5 | FLNA | MAP2K2 | RPS24 | WRN |
COL10A1 | FLNB | MATN3 | RPS6KA3 | ZBTB16 |
COL11A1 | FOXC1 | MC4R | RPS7 | |
COL11A2 | FUCA1 | MECP2 | RUNX2 | |
COL1A1 | G6PC | MGP | SBDS | |
COL1A2 | GALNS | MKKS | SDHA | |
COL2A1 | GDF5 | MKS1 | SECISBP2 | |
COL5A1 | GH1 | MMP13 | SEMA3E | |
COL5A2 | GHR | MRPS16 | SHH | |
COL9A1 | GHRHR | MYCN | SHOX | |
COL9A2 | GHSR | NBN | SHROOM4 |
Supplementary Table 11. Height SNPs found to be located near or in the abnormal skeletal/growth genes identified in the OMIM database and listed in Supplementary Table 10.
SNP |
Abnormal skeletal/growth gene (OMIM) |
The closest gene to the height SNP is the abnormal skeletal/growth gene |
The height SNP is in the abnormal skeletal/growth gene |
rs16942341 |
ACAN |
yes |
yes |
rs4072910 |
ADAMTS10 |
yes |
no |
rs16964211 |
CYP19A1 |
yes |
yes |
rs9967417 |
DYM |
yes |
yes |
rs11684404 |
EIF2AK3 |
yes |
yes |
rs6457821 |
FANCE |
no |
no |
rs143384 |
GDF5 |
yes |
yes |
rs2665838 |
GH1 |
no |
no |
rs572169 |
GHSR |
yes |
yes |
rs7971536 |
GNPTAB |
no |
no |
rs1351394 |
HMGA2 |
yes |
yes |
rs2871865 |
IGF1R |
yes |
yes |
rs12470505 |
IHH |
yes |
no |
rs17782313 |
MC4R |
yes |
no |
rs227724 |
NOG |
yes |
no |
rs422421 |
NSD1 |
no |
no |
rs473902 |
PTCH1 |
yes |
yes |
rs3764419 |
RNF135 |
no |
no |
rs10874746 |
RPL5 |
no |
no |
rs9472414 |
RUNX2 |
no |
no |
rs10838801 |
SLC39A13 |
no |
no |
Supplementary Table 13. Biological evidence for genes at the 180 height associated loci. The list of genes is based on genes listed in Supplementary Table 12 (i.e. within a nominally associated pathway and less than 300kb away from one of the 180 height-associated signals), genes with expression evidence where the associated signal had an r2 > 0.8 with the peak SNP in the region in any of the tissues listed in Supplementary Table 7, and genes listed in Supplementary Table 8, where the associated signal was in high LD with a nsSNP. OMIM Evidence is based on genes obtained from the OMIM database (http://www.ncbi.nlm.nih.gov/omim) and listed in Supplementary Table 11. Jackson Lab Evidence was obtained by matching Gene column entries to Jackson Lab database (http://www.informatics.jax.org/) on genes reported to have either “growth/size”, “limb/tail/digit”or “skeleton” phenotype.
Gene | Expression Evidence | Missense SNP in LD r2>=0.8 (amino acid change, Polyphen2 prediction) | OMIM Evidence | Gene nearest to height signal | Jackson Lab Evidence | Biological Pathways | Number of lines of evidence |
ACAN | rs938608 (S930I, possibly damaging)rs938609 (S939T, probably damaging)
rs2882676 (E1508A, benign) |
yes | yes | growth/sizelimbs/digit/tail
skeleton |
Extracellular matrix glycoprotein | 5 | |
CDK6 | Lymphocyte | yes | growth/size | Negative regulation of epithelial cell proliferation | 4 | ||
CYP19A1 | yes | yes | growth/sizeskeleton | 4 | |||
EIF2AK3 | rs1805165 (A704S, benign)rs13045 (Q166R, benign)
rs867529 (S136C, benign) |
yes | yes | growth/sizelimbs/digit/tail
skeleton |
4 | ||
FGFR4 | rs376618 (P136L, benign) | yes | growth/size | MAPK signaling pathway | 4 | ||
GDF5 | yes | yes | growth/sizelimbs/digit/tail
skeleton |
TGFbeta signaling pathway | 4 | ||
HMGA2 | yes | yes | growth/sizelimbs/digit/tail | Chromosome | 4 | ||
ID4 | Omentum | yes | growth/size | TGFbeta signaling pathway | 4 | ||
IGF1R | yes | yes | growth/sizelimbs/digit/tail
skeleton |
Mammary gland development | 4 | ||
NOG | yes | yes | growth/sizelimbs/digit/tail
skeleton |
TGFbeta signaling pathway | 4 | ||
PML | OmentumSubcutaneous fat | rs5742915 (F645L, benign) | yes | Nuclear membrane | 4 | ||
PTCH1 | yes | yes | growth/sizelimbs/digit/tail
skeleton |
Hedgehog signaling pathway | 4 | ||
STAT2 | LiverOmentum
Subcutaneous fat |
rs2066807 (M594I, benign) | yes | Other transcription factor | 4 | ||
ADAMTS10 | yes | yes | Metalloprotease | 3 | |||
ADAMTSL3 | rs4842838 (V661L, benign) | yes | Extracellular matrix glycoprotein | 3 | |||
BMP2 | yes | growth/sizelimbs/digit/tail
skeleton |
Hedgehog signaling pathway | 3 | |||
BMP6 | yes | growth/sizeskeleton | Hedgehog signaling pathway | 3 | |||
C3orf63 | Subcutaneous fat | rs9835332 (T609R, benign)rs958755 (Q38P, benign) | yes | 3 | |||
DYM | yes | yes | growth/sizelimbs/digit/tail
skeleton |
3 | |||
EFEMP1 | yes | growth/sizeskeleton | Extracellular matrix glycoprotein | 3 | |||
ESR1 | yes | growth/sizelimbs/digit/tail
skeleton |
Transcription factor | 3 | |||
ETV6 | yes | growth/size | Other transcription factor | 3 | |||
FANCE | rs7761870 (S204L, benign) | yes | Role of BRCA1 in DNA damage response | 3 | |||
FLI1 | yes | growth/size | Other transcription factor | 3 | |||
FRS2 | yes | growth/sizelimbs/digit/tail | Neuroblast proliferation | 3 | |||
GH1 | yes | growth/size | JAK-STAT cascade | 3 | |||
GHSR | yes | yes | growth/sizeskeleton | 3 | |||
GNA12 | Lymphocyte | yes | MAPK signaling pathway | 3 | |||
HHIP | yes | growth/size | Hedgehog signaling pathway | 3 | |||
HMGA1 | yes | growth/size | Chromosome | 3 | |||
IHH | yes | growth/sizelimbs/digit/tail
skeleton |
Hedgehog signaling pathway | 3 | |||
INSR | yes | growth/size | Type-2 diabetes | 3 | |||
LTBP1 | yes | skeleton | TGFbeta signaling pathway | 3 | |||
MC4R | yes | yes | growth/sizeskeleton | 3 | |||
MEF2C | yes | growth/sizelimbs/digit/tail
skeleton |
MAPK signaling pathway | 3 | |||
MFAP2 | Omentum | yes | Extracellular matrix glycoprotein | 3 | |||
NFATC4 | yes | growth/sizeskeleton | MAPK signaling pathway | 3 | |||
PAPPA | yes | growth/sizeskeleton | Metalloprotease | 3 | |||
PITX1 | yes | limbs/digit/tailskeleton | Anatomical structure morphogenesis | 3 | |||
PPARD | yes | growth/size | VDR/RXR activation | 3 | |||
PPARD | yes | growth/size | VDR/RXR activation | 3 | |||
PRKG2 | yes | growth/sizelimbs/digit/tail
skeleton |
Endothelin signaling pathway | 3 | |||
RUNX2 | yes | growth/size, limbs/digit/tail, skeleton | TGFbeta signaling pathway | 3 | |||
RYBP | Omentum | yes | growth/size | 3 | |||
SCMH1 | yes | skeleton | Transcription factor | 3 | |||
SLBP | Lymphocyte | yes | Other RNA-binding protein | 3 | |||
SOCS2 | yes | growth/sizelimbs/digit/tail
skeleton |
Type-2 diabetes | 3 | |||
STK36 | rs1344642 (R583Q, probably damaging)rs1863704 (G1003D, benign) | growth/sizeskeleton | Hedgehog signaling pathway | 3 | |||
TBX2 | yes | limbs/digit/tail | Other transcription factor | 3 | |||
TEAD1 | yes | growth/size | Other transcription factor | 3 | |||
TGFB2 | yes | growth/sizelimbs/digit/tail
skeleton |
TGFbeta signaling pathway | 3 | |||
TSEN15 | OmentumSubcutaneous fat | rs2274432 (G19D, probably damaging) | yes | 3 | |||
SEPT2 | Lymphocyte | yes | 2 | ||||
ADAM28 | yes | Metalloprotease | 2 | ||||
ADAMTS17 | yes | Metalloprotease | 2 | ||||
ADAMTS3 | yes | Metalloprotease | 2 | ||||
AKD1 | Omentum | rs2277114 (V1555I, benign) | 2 | ||||
ANKRD13B | Subcutaneous fat | yes | 2 | ||||
BNC2 | yes | growth/sizeskeleton | 2 | ||||
C6orf173 | yes | chromosome | 2 | ||||
CCDC108 | yes | 2 | |||||
CCDC66 | Osteoblast | rs7637449 (R460Q, probably damaging) | 2 | ||||
CCDC91 | rs11049488 (A36T, benign) | yes | 2 | ||||
CLIC4 | yes | growth/size | 2 | ||||
CLPS | rs2766597 (L8P, possibly damaging) | growth/size | 2 | ||||
CPN1 | yes | Metalloprotease | 2 | ||||
DDX27 | Subcutaneous fat | rs11553387 (G206V, benign) | 2 | ||||
DNM3 | Lymphocyte | yes | 2 | ||||
DTL | yes | Nuclear membrane | 2 | ||||
ECM2 | rs10120210 (Q56P, probably damaging) | Proteinaceous extracellular matrix | 2 | ||||
EXOSC5 | rs10853751 (T5M, benign) | Exoribonuclease | 2 | ||||
FBLN2 | Omentum | Extracellular matrix glycoprotein | 2 | ||||
FBXW11 | yes | Hedgehog signaling pathway | 2 | ||||
FOLH1 | Subcutaneous fat | yes | 2 | ||||
FUBP3 | yes | Other RNA-binding protein | 2 | ||||
GNPTAB | yes | Other transcription factor | 2 | ||||
GPC5 | yes | Extracellular matrix glycoprotein | 2 | ||||
H1FX | Lymphocyte | Histone | 2 | ||||
HLA-B | Liver | Antigen processing and presentation | 2 | ||||
IGF2BP2 | yes | Other RNA-binding protein | 2 | ||||
IGF2BP3 | yes | Other RNA-binding protein | 2 | ||||
ITPR3 | rs2229642 (L2436V, benign) | growth/size | 2 | ||||
KCNQ1 | yes | growth/size | 2 | ||||
L3MBTL3 | yes | Transcription factor | 2 | ||||
LIN28 | yes | Other transcription factor | 2 | ||||
LIN28B | yes | Other transcription factor | 2 | ||||
LPAR1 | yes | growth/size | 2 | ||||
LRRC37B | Omentum | yes | 2 | ||||
LTBP2 | yes | Extracellular matrix glycoprotein | 2 | ||||
LUZP1 | LiverSubcutaneous fat | growth/size | 2 | ||||
MICA | yes | Major histocompatibility complex antigen | 2 | ||||
MKL2 | yes | Other transcription factor | 2 | ||||
MTMR11 | rs11205303 (M159V, benign) | Other phosphatase | 2 | ||||
MYO9B | yes | Nicotinic acetylcholine receptor signaling pathway | 2 | ||||
NFIC | yes | Transcription factor | 2 | ||||
NME2 | yes | growth/size | 2 | ||||
NPPC | yes | growth/sizelimbs/digit/tail
skeleton |
2 | ||||
NPR3 | yes | growth/sizelimbs/digit/tail
skeleton |
2 | ||||
NUCB2 | yes | Annexin | 2 | ||||
PAPPA2 | yes | Metalloprotease | 2 | ||||
PCSK5 | yes | growth/sizelimbs/digit/tail
skeleton |
2 | ||||
PDS5B | yes | growth/sizelimbs/digit/tail
skeleton |
2 | ||||
PEX2 | yes | growth/sizeskeleton | 2 | ||||
PIP4K2B | yes | growth/sizelimbs/digit/tail
skeleton |
2 | ||||
PKN2 | yes | Annexin | 2 | ||||
PPAP2A | Omentum | Other phosphatase | 2 | ||||
PPIF | yes | Mitochondrial inner membrane | 2 | ||||
PRKCZ | yes | Type-2 diabetes | 2 | ||||
PSMB3 | Osteoblast | Parkinson disease | 2 | ||||
PTPRJ | yes | growth/size | 2 | ||||
QSOX2 | yes | Nuclear membrane | 2 | ||||
REST | rs3796529 (P797L, probably damaging) | growth/size | 2 | ||||
RPL5 | yes | yes | 2 | ||||
SLC22A4 | LiverSubcutaneous fat | rs272893 (I306T, benign) | 2 | ||||
SLC22A5 | yes | growth/size | 2 | ||||
SLC39A13 | yes | growth/sizelimbs/digit/tail
skeleton |
2 | ||||
SLIT3 | yes | growth/size | 2 | ||||
SOCS5 | LiverOmentum
Subcutaneous fat |
yes | 2 | ||||
TNS1 | yes | Other phosphatase | 2 | ||||
TRIP11 | yes | growth/size | 2 | ||||
UTP6 | Liver | Other transcription factor | 2 | ||||
VGLL2 | yes | Transcription factor | 2 | ||||
ZBTB24 | LymphocyteOmentum | yes | 2 | ||||
ZNFX1 | rs6512577 (M1259I, benign) | yes | 2 | ||||
AK092571 | Subcutaneous fat | 1 | |||||
AL117656 | OmentumSubcutaneous fat | 1 | |||||
AL161980 | OmentumSubcutaneous fat | 1 | |||||
ATP6V1E2 | Subcutaneous fat | 1 | |||||
B3GNT8 | rs284662 (S137G, benign) | 1 | |||||
BC030091 | LiverOmentum
Subcutaneous fat |
1 | |||||
C17orf42 | LiverLymphocyte
Omentum Subcutaneous fat |
1 | |||||
C17orf82 | Subcutaneous fat | 1 | |||||
C20orf199 | Lymphocyte | 1 | |||||
C6orf1 | rs1150781 (G150A, unknown) | 1 | |||||
CCDC100 | Omentum | 1 | |||||
CDK2AP1 | Lymphocyte | 1 | |||||
Contig21370_RC | Omentum | 1 | |||||
Contig40232_RC | Subcutaneous fat | 1 | |||||
Contig41005_RC | Liver | 1 | |||||
Contig43791_RC | Omentum | 1 | |||||
CWF19L1 | OmentumSubcutaneous fat | 1 | |||||
FAM173A | Lymphocyte | 1 | |||||
FARP2 | Omentum | 1 | |||||
FNDC3B | rs7652177 (T179S, benign) | 1 | |||||
HAGHL | OmentumSubcutaneous fat | 1 | |||||
HDLBP | rs7578199 (N418S, benign) | 1 | |||||
HSS00017874 | Omentum | 1 | |||||
HSS00085450 | Subcutaneous fat | 1 | |||||
HSS00174467 | Omentum | 1 | |||||
INTS7 | LymphocyteOmentum | 1 | |||||
JMJD4 | Osteoblast | 1 | |||||
MSTP9 | Liver | 1 | |||||
N4BP2L2 | LiverOmentum
Subcutaneous fat |
1 | |||||
NSD1 | yes | 1 | |||||
PFAAP5 | LymphocyteOsteoblast | 1 | |||||
PIP5K2B | OmentumSubcutaneous fat | 1 | |||||
PPA2 | Omentum | 1 | |||||
QSCN6L1 | OmentumSubcutaneous fat | 1 | |||||
RMI1 | rs1982151 (N455S, benign) | 1 | |||||
RNF135 | yes | 1 | |||||
SLC23A3 | Omentum | 1 | |||||
SMPD2 | rs1476387 (R265S, benign) | 1 | |||||
SNAP47 | Liver | 1 | |||||
TCF19 | rs2073721 (M211V, benign) | 1 | |||||
TMEM4 | Lymphocyte | 1 | |||||
TP53I13 | OmentumSubcutaneous fat | 1 | |||||
USP52 | Osteoblast | 1 | |||||
VPS13C | rs3784634 (R931K, benign) | 1 | |||||
ZNF142 | rs3770213 (L956H, benign)rs3770214 (S751G, benign) | 1 | |||||
ZNF311 | rs6456880 (K511Q, benign) | 1 |
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