rs121909109
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121909109(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 135031290 |
| Gene | C5orf66, PITX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909109 |
| dbSNP (classic) | rs121909109 |
| ClinGen | rs121909109 |
| ebi | rs121909109 |
| HLI | rs121909109 |
| Exac | rs121909109 |
| Gnomad | rs121909109 |
| Varsome | rs121909109 |
| LitVar | rs121909109 |
| Map | rs121909109 |
| PheGenI | rs121909109 |
| Biobank | rs121909109 |
| 1000 genomes | rs121909109 |
| hgdp | rs121909109 |
| ensembl | rs121909109 |
| geneview | rs121909109 |
| scholar | rs121909109 |
| rs121909109 | |
| pharmgkb | rs121909109 |
| gwascentral | rs121909109 |
| openSNP | rs121909109 |
| 23andMe | rs121909109 |
| SNPshot | rs121909109 |
| SNPdbe | rs121909109 |
| MSV3d | rs121909109 |
| GWAS Ctlg | rs121909109 |
| Max Magnitude | 0 |
aka c.388G>A (p.Glu130Lys)
rs121909109 represents a variant in the PITX1 gene on chromosome 5; the rare rs121909109(A) allele is considered a dominant mutation leading to talipes equinovarus, based on an analysis of a 5-generation family segregating asymmetric right-sided predominant clubfoot.[PMID 18950742
]
| ClinVar | |
|---|---|
| Risk | rs121909109(A;A) |
| Alt | rs121909109(A;A) |
| Reference | Rs121909109(G;G) |
| Significance | Pathogenic |
| Disease | Talipes equinovarus |
| Variation | info |
| Gene | C5orf66 PITX1 |
| CLNDBN | Talipes equinovarus |
| Reversed | 1 |
| HGVS | NC_000005.9:g.134366980C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007934.5, |
