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rs367785431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367785431(A;A)
Make rs367785431(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position201359221
GeneTNNT2
is asnp
is mentioned by
dbSNPrs367785431
dbSNP (classic)rs367785431
ClinGenrs367785431
ebirs367785431
HLIrs367785431
Exacrs367785431
Gnomadrs367785431
Varsomers367785431
LitVarrs367785431
Maprs367785431
PheGenIrs367785431
Biobankrs367785431
1000 genomesrs367785431
hgdprs367785431
ensemblrs367785431
geneviewrs367785431
scholarrs367785431
googlers367785431
pharmgkbrs367785431
gwascentralrs367785431
openSNPrs367785431
23andMers367785431
SNPshotrs367785431
SNPdbers367785431
MSV3drs367785431
GWAS Ctlgrs367785431
Max Magnitude0
ClinVar
Risk rs367785431(A;A)
Alt rs367785431(A;A)
Reference Rs367785431(G;G)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Familial hypertrophic cardiomyopathy 2
Variation info
Gene TNNT2
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Familial hypertrophic cardiomyopathy 2
Reversed 0
HGVS NC_000001.10:g.201328349G>A
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000036625.2, RCV000168978.2, RCV000201898.1, RCV000466963.1,