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rs41309764

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome9
Position136508238
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs41309764
ebirs41309764
HLIrs41309764
Exacrs41309764
Varsomers41309764
Maprs41309764
PheGenIrs41309764
hapmaprs41309764
1000 genomesrs41309764
hgdprs41309764
ensemblrs41309764
gopubmedrs41309764
geneviewrs41309764
scholarrs41309764
googlers41309764
pharmgkbrs41309764
gwascentralrs41309764
openSNPrs41309764
23andMers41309764
23andMe allrs41309764
SNP Nexus

SNPshotrs41309764
SNPdbers41309764
MSV3drs41309764
GWAS Ctlgrs41309764
Max Magnitude5
rs41309764, also known as 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]

OMIM190198
Desc
Variant0001
Relatedalso


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,