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rs104894730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55154047
GeneTNNI3
is asnp
is mentioned by
dbSNPrs104894730
ebirs104894730
HLIrs104894730
Exacrs104894730
Varsomers104894730
Maprs104894730
PheGenIrs104894730
hapmaprs104894730
1000 genomesrs104894730
hgdprs104894730
ensemblrs104894730
gopubmedrs104894730
geneviewrs104894730
scholarrs104894730
googlers104894730
pharmgkbrs104894730
gwascentralrs104894730
openSNPrs104894730
23andMers104894730
23andMe allrs104894730
SNP Nexus

SNPshotrs104894730
SNPdbers104894730
MSV3drs104894730
GWAS Ctlgrs104894730
Merged fromRs28934870
Max Magnitude0

rs104894730, also known as c.532A>G, p.Lys178Glu and K178E, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs104894730(G) allele is reported to lead to familial restrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0007.

This mutation is referred to as i5007733 by 23andMe.

OMIM191044
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894730(G;G)
Alt rs104894730(G;G)
Reference rs104894730(A;A)
Significance Pathogenic
Disease Familial restrictive cardiomyopathy 1
Variation info
Gene TNNI3
CLNDBN Familial restrictive cardiomyopathy 1
Reversed 1
HGVS NC_000019.9:g.55665415T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013238.23,