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rs267607123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607123(A;A)
Make rs267607123(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position52452222
GeneTNNC1
is asnp
is mentioned by
dbSNPrs267607123
dbSNP (classic)rs267607123
ClinGenrs267607123
ebirs267607123
HLIrs267607123
Exacrs267607123
Gnomadrs267607123
Varsomers267607123
LitVarrs267607123
Maprs267607123
PheGenIrs267607123
Biobankrs267607123
1000 genomesrs267607123
hgdprs267607123
ensemblrs267607123
geneviewrs267607123
scholarrs267607123
googlers267607123
pharmgkbrs267607123
gwascentralrs267607123
openSNPrs267607123
23andMers267607123
SNPshotrs267607123
SNPdbers267607123
MSV3drs267607123
GWAS Ctlgrs267607123
Max Magnitude0
ClinVar
Risk rs267607123(A;A)
Alt rs267607123(A;A)
Reference Rs267607123(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 13 not specified
Variation info
Gene TNNC1
CLNDBN Familial hypertrophic cardiomyopathy 13 not specified
Reversed 1
HGVS NC_000003.11:g.52486238A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013255.23, RCV000215162.2,