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rs104894727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55151881
GeneTNNI3
is asnp
is mentioned by
dbSNPrs104894727
ebirs104894727
HLIrs104894727
Exacrs104894727
Varsomers104894727
Maprs104894727
PheGenIrs104894727
hapmaprs104894727
1000 genomesrs104894727
hgdprs104894727
ensemblrs104894727
gopubmedrs104894727
geneviewrs104894727
scholarrs104894727
googlers104894727
pharmgkbrs104894727
gwascentralrs104894727
openSNPrs104894727
23andMers104894727
23andMe allrs104894727
SNP Nexus

SNPshotrs104894727
SNPdbers104894727
MSV3drs104894727
GWAS Ctlgrs104894727
Max Magnitude0

rs104894727, also known as c.586G>A, p.Asp196Asn and D196N, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs104894727(A) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0004.

This mutation is referred to as i5007730 by 23andMe.

OMIM191044
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894727(A,T;A,T)
Alt rs104894727(A,T;A,T)
Reference rs104894727(G;G)
Significance Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 7 Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene TNNI3
CLNDBN not specified Familial hypertrophic cardiomyopathy 7 Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000019.9:g.55663249C>A; NC_000019.9:g.55663249C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000156282.1, RCV000013234.22, RCV000036308.2, RCV000148897.1, RCV000159246.2,