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rs104894728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55151898
GeneTNNI3
is asnp
is mentioned by
dbSNPrs104894728
ebirs104894728
HLIrs104894728
Exacrs104894728
Varsomers104894728
Maprs104894728
PheGenIrs104894728
hapmaprs104894728
1000 genomesrs104894728
hgdprs104894728
ensemblrs104894728
gopubmedrs104894728
geneviewrs104894728
scholarrs104894728
googlers104894728
pharmgkbrs104894728
gwascentralrs104894728
openSNPrs104894728
23andMers104894728
23andMe allrs104894728
SNP Nexus

SNPshotrs104894728
SNPdbers104894728
MSV3drs104894728
GWAS Ctlgrs104894728
Max Magnitude0

rs104894728, also known as c.569A>G, p.Asp190Gly and D190G, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs104894728(G) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0005.

This mutation is referred to as i5007731 by 23andMe.

OMIM191044
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894728(G;G)
Alt rs104894728(G;G)
Reference rs104894728(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Variation info
Gene TNNI3
CLNDBN Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Reversed 1
HGVS NC_000019.9:g.55663266T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013235.23, RCV000013236.22,