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rs397514616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514616(G;T)
Make rs397514616(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position52452217
GeneTNNC1
is asnp
is mentioned by
dbSNPrs397514616
dbSNP (classic)rs397514616
ClinGenrs397514616
ebirs397514616
HLIrs397514616
Exacrs397514616
Gnomadrs397514616
Varsomers397514616
LitVarrs397514616
Maprs397514616
PheGenIrs397514616
Biobankrs397514616
1000 genomesrs397514616
hgdprs397514616
ensemblrs397514616
geneviewrs397514616
scholarrs397514616
googlers397514616
pharmgkbrs397514616
gwascentralrs397514616
openSNPrs397514616
23andMers397514616
SNPshotrs397514616
SNPdbers397514616
MSV3drs397514616
GWAS Ctlgrs397514616
Max Magnitude0
ClinVar
Risk rs397514616(A;A) rs397514616(T;T)
Alt rs397514616(A;A) rs397514616(T;T)
Reference Rs397514616(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 13 not provided
Variation info
Gene TNNC1
CLNDBN Familial hypertrophic cardiomyopathy 13 not provided
Reversed 1
HGVS NC_000003.11:g.52486233C>A; NC_000003.11:g.52486233C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033053.22, RCV000159193.2,