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rs201457110

From SNPedia

Mitral Valve Prolapse
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3.5 Mitral valve prolapse
Make rs201457110(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6624138
GeneDCHS1
is asnp
is mentioned by
dbSNPrs201457110
ebirs201457110
HLIrs201457110
Exacrs201457110
Varsomers201457110
Maprs201457110
PheGenIrs201457110
hapmaprs201457110
1000 genomesrs201457110
hgdprs201457110
ensemblrs201457110
gopubmedrs201457110
geneviewrs201457110
scholarrs201457110
googlers201457110
pharmgkbrs201457110
gwascentralrs201457110
openSNPrs201457110
23andMers201457110
23andMe allrs201457110
SNP Nexus

SNPshotrs201457110
SNPdbers201457110
MSV3drs201457110
GWAS Ctlgrs201457110
Max Magnitude3.5
rs201457110, also known as c.7538G>A, p.Arg2513His and R2513H, 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 rs201457110 mutation. Acting as an autosomal dominant, the rs201457110(T) allele was reported to be a causative mutation for MVP.[PMID 26258302]

ClinVar
Risk rs201457110(T;T)
Alt rs201457110(T;T)
Reference rs201457110(C;C)
Significance Pathogenic
Disease Mitral valve prolapse 2
Variation info
Gene DCHS1
CLNDBN Mitral valve prolapse 2
Reversed 0
HGVS NC_000011.9:g.6645369C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201949.1,