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rs267607126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607126(A;A)
Make rs267607126(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position52451810
GeneTNNC1
is asnp
is mentioned by
dbSNPrs267607126
dbSNP (classic)rs267607126
ClinGenrs267607126
ebirs267607126
HLIrs267607126
Exacrs267607126
Gnomadrs267607126
Varsomers267607126
LitVarrs267607126
Maprs267607126
PheGenIrs267607126
Biobankrs267607126
1000 genomesrs267607126
hgdprs267607126
ensemblrs267607126
geneviewrs267607126
scholarrs267607126
googlers267607126
pharmgkbrs267607126
gwascentralrs267607126
openSNPrs267607126
23andMers267607126
SNPshotrs267607126
SNPdbers267607126
MSV3drs267607126
GWAS Ctlgrs267607126
Max Magnitude0
ClinVar
Risk rs267607126(A;A)
Alt rs267607126(A;A)
Reference Rs267607126(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 13
Variation info
Gene TNNC1
CLNDBN Familial hypertrophic cardiomyopathy 13
Reversed 1
HGVS NC_000003.11:g.52485826C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013257.24,