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rs863225120

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;T) 0 common in clinvar


Make rs863225120(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position201361970
GeneTNNT2
is asnp
is mentioned by
dbSNPrs863225120
dbSNP (classic)rs863225120
ClinGenrs863225120
ebirs863225120
HLIrs863225120
Exacrs863225120
Gnomadrs863225120
Varsomers863225120
LitVarrs863225120
Maprs863225120
PheGenIrs863225120
Biobankrs863225120
1000 genomesrs863225120
hgdprs863225120
ensemblrs863225120
geneviewrs863225120
scholarrs863225120
googlers863225120
pharmgkbrs863225120
gwascentralrs863225120
openSNPrs863225120
23andMers863225120
SNPshotrs863225120
SNPdbers863225120
MSV3drs863225120
GWAS Ctlgrs863225120
Max Magnitude6.2
ClinVar
Risk rs863225120(C;C)
Alt rs863225120(C;C)
Reference Rs863225120(T;T)
Significance Probable-Pathogenic
Disease Familial hypertrophic cardiomyopathy 2
Variation info
Gene TNNT2
CLNDBN Familial hypertrophic cardiomyopathy 2
Reversed 1
HGVS NC_000001.10:g.201331098A>G
CLNSRC
CLNACC RCV000201435.1,