rs41309764
A SNP in the NOTCH1 gene on chromosome 9. Its most notable genotype is A;G: Congenital heart disease and valve calcification likely
- Gene
- NOTCH1
- Location
- Chr 9136,508,238 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodnormal
- A;GMost notableBadCongenital heart disease and valve calcification likely
- A;ABadCongenital heart disease and valve calcification
SNPedia records rs41309764 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Notes
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.
Source and license
Adapted from rs41309764 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.