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rs267607125

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607125(C;T)
Make rs267607125(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position52453993
GeneNISCH, TNNC1
is asnp
is mentioned by
dbSNPrs267607125
ebirs267607125
HLIrs267607125
Exacrs267607125
Varsomers267607125
Maprs267607125
PheGenIrs267607125
hapmaprs267607125
1000 genomesrs267607125
hgdprs267607125
ensemblrs267607125
gopubmedrs267607125
geneviewrs267607125
scholarrs267607125
googlers267607125
pharmgkbrs267607125
gwascentralrs267607125
openSNPrs267607125
23andMers267607125
23andMe allrs267607125
SNP Nexus

SNPshotrs267607125
SNPdbers267607125
MSV3drs267607125
GWAS Ctlgrs267607125
Max Magnitude0
ClinVar
Risk rs267607125(T;T)
Alt rs267607125(T;T)
Reference rs267607125(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 13 not specified not provided
Variation info
Gene TNNC1 NISCH
CLNDBN Familial hypertrophic cardiomyopathy 13 not specified not provided
Reversed 1
HGVS NC_000003.11:g.52488009G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013256.23, RCV000037762.3, RCV000159204.2,