rs41309764
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 5 | Congenital heart disease and valve calcification likely |
| (T;T) | 5 | Congenital heart disease and valve calcification |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 136508238 |
| Gene | NOTCH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41309764 |
| dbSNP (classic) | rs41309764 |
| ClinGen | rs41309764 |
| ebi | rs41309764 |
| HLI | rs41309764 |
| Exac | rs41309764 |
| Gnomad | rs41309764 |
| Varsome | rs41309764 |
| LitVar | rs41309764 |
| Map | rs41309764 |
| PheGenI | rs41309764 |
| Biobank | rs41309764 |
| 1000 genomes | rs41309764 |
| hgdp | rs41309764 |
| ensembl | rs41309764 |
| geneview | rs41309764 |
| scholar | rs41309764 |
| rs41309764 | |
| pharmgkb | rs41309764 |
| gwascentral | rs41309764 |
| openSNP | rs41309764 |
| 23andMe | rs41309764 |
| SNPshot | rs41309764 |
| SNPdbe | rs41309764 |
| MSV3d | rs41309764 |
| GWAS Ctlg | rs41309764 |
| Max Magnitude | 5 |
rs41309764, also known as c.3319C>T, p.Arg1107Ter and R1108X, is a SNP in the NOTCH1 gene. The common allele is rs41309764(C), while the rare rs41309764(T) allele encodes the variant.
A normal human heart contains three valves. Carriers of one rs41309764(T) allele, such as Arnold Schwarzenegger, will develop an early developmental defect in the aortic valve leading to a bicuspid aortic valve, and without treatment, they are prone to progressive aortic valve disease in their later life due to calcification.[PMID 16025100]
| ClinVar | |
|---|---|
| Risk | Rs41309764(T;T) |
| Alt | Rs41309764(T;T) |
| Reference | Rs41309764(C;C) |
| Significance | Pathogenic |
| Disease | Aortic valve disorder |
| Variation | info |
| Gene | NOTCH1 |
| CLNDBN | Aortic valve disorder |
| Reversed | 1 |
| HGVS | NC_000009.11:g.139402690G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013294.23, |
