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rs267607124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607124(A;A)
Make rs267607124(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position52451410
GeneTNNC1
is asnp
is mentioned by
dbSNPrs267607124
dbSNP (classic)rs267607124
ClinGenrs267607124
ebirs267607124
HLIrs267607124
Exacrs267607124
Gnomadrs267607124
Varsomers267607124
LitVarrs267607124
Maprs267607124
PheGenIrs267607124
Biobankrs267607124
1000 genomesrs267607124
hgdprs267607124
ensemblrs267607124
geneviewrs267607124
scholarrs267607124
googlers267607124
pharmgkbrs267607124
gwascentralrs267607124
openSNPrs267607124
23andMers267607124
SNPshotrs267607124
SNPdbers267607124
MSV3drs267607124
GWAS Ctlgrs267607124
Max Magnitude0
ClinVar
Risk rs267607124(A;A) rs267607124(G;G) rs267607124(T;T)
Alt rs267607124(A;A) rs267607124(G;G) rs267607124(T;T)
Reference Rs267607124(C;C)
Significance Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 13 not provided Dilated cardiomyopathy 1Z Dilated cardiomyopathy 1S
Variation info
Gene TNNC1
CLNDBN not specified Familial hypertrophic cardiomyopathy 13 not provided Dilated cardiomyopathy 1Z Dilated cardiomyopathy 1S
Reversed 1
HGVS NC_000003.11:g.52485426G>A; NC_000003.11:g.52485426G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000220842.1, RCV000013258.24, RCV000159191.3, RCV000222787.2, RCV000227883.1, RCV000491539.1,