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rs192057022

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs192057022(C;T)
Make rs192057022(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position110913139
GeneMYL2
is asnp
is mentioned by
dbSNPrs192057022
ebirs192057022
HLIrs192057022
Exacrs192057022
Varsomers192057022
Maprs192057022
PheGenIrs192057022
hapmaprs192057022
1000 genomesrs192057022
hgdprs192057022
ensemblrs192057022
gopubmedrs192057022
geneviewrs192057022
scholarrs192057022
googlers192057022
pharmgkbrs192057022
gwascentralrs192057022
openSNPrs192057022
23andMers192057022
23andMe allrs192057022
SNP Nexus

SNPshotrs192057022
SNPdbers192057022
MSV3drs192057022
GWAS Ctlgrs192057022
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs192057022(T;T)
Alt rs192057022(T;T)
Reference rs192057022(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not specified Familial hypertrophic cardiomyopathy 10
Variation info
Gene MYL2
CLNDBN Primary familial hypertrophic cardiomyopathy not specified Familial hypertrophic cardiomyopathy 10
Reversed 0
HGVS NC_000012.11:g.111350943C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030324.1, RCV000036398.2, RCV000228967.1,