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rs768737101

From SNPedia

Mitral Valve Prolapse
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3.5 Mitral valve prolapse
(G;G) 0 common/normal


Make rs768737101(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6625356
GeneDCHS1
is asnp
is mentioned by
dbSNPrs768737101
ebirs768737101
HLIrs768737101
Exacrs768737101
Varsomers768737101
Maprs768737101
PheGenIrs768737101
hapmaprs768737101
1000 genomesrs768737101
hgdprs768737101
ensemblrs768737101
gopubmedrs768737101
geneviewrs768737101
scholarrs768737101
googlers768737101
pharmgkbrs768737101
gwascentralrs768737101
openSNPrs768737101
23andMers768737101
23andMe allrs768737101
SNP Nexus

SNPshotrs768737101
SNPdbers768737101
MSV3drs768737101
GWAS Ctlgrs768737101
Max Magnitude3.5
rs768737101, also known as c.6988C>T, p.Arg2330Cys and R2330C, is a mutation in the DCHS1 gene on chromosome 11.

Sequencing a family with several members affected by mitral valve prolapse (MVP) lead to the discovery of the rare rs768737101 mutation. Acting as an autosomal dominant, the rs768737101(A) allele was reported to be a causative mutation for MVP.[PMID 26258302]

ClinVar
Risk rs768737101(A;A)
Alt rs768737101(A;A)
Reference rs768737101(G;G)
Significance Pathogenic
Disease Mitral valve prolapse 2
Variation info
Gene DCHS1
CLNDBN Mitral valve prolapse 2
Reversed 0
HGVS NC_000011.9:g.6646587G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201937.1,