rs142036701
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common/normal |
| (G;T) | 2 | Height-related; carriers reported to be 2cm shorter than non-carriers |
| Make rs142036701(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 219060239 |
| Gene | IHH, MIR3131 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142036701 |
| dbSNP (classic) | rs142036701 |
| ClinGen | rs142036701 |
| ebi | rs142036701 |
| HLI | rs142036701 |
| Exac | rs142036701 |
| Gnomad | rs142036701 |
| Varsome | rs142036701 |
| LitVar | rs142036701 |
| Map | rs142036701 |
| PheGenI | rs142036701 |
| Biobank | rs142036701 |
| 1000 genomes | rs142036701 |
| hgdp | rs142036701 |
| ensembl | rs142036701 |
| geneview | rs142036701 |
| scholar | rs142036701 |
| rs142036701 | |
| pharmgkb | rs142036701 |
| gwascentral | rs142036701 |
| openSNP | rs142036701 |
| 23andMe | rs142036701 |
| SNPshot | rs142036701 |
| SNPdbe | rs142036701 |
| MSV3d | rs142036701 |
| GWAS Ctlg | rs142036701 |
| Max Magnitude | 2 |
[PMID 28146470
] Rare and low-frequency coding variants alter human adult height.
- Height related SNP; carriers of the (rare) minor allele for this SNP are approximately 2 cm shorter than non-carriers.
| ClinVar | |
|---|---|
| Risk | rs142036701(T;T) |
| Alt | rs142036701(T;T) |
| Reference | Rs142036701(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Brachydactyly |
| Variation | info |
| Gene | IHH MIR3131 |
| CLNDBN | Brachydactyly |
| Reversed | 0 |
| HGVS | NC_000002.11:g.219924961G>T |
| CLNSRC | |
| CLNACC | RCV000348092.1, |
