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rs387906898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906898(C;T)
Make rs387906898(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44160293
GeneJPH2
is asnp
is mentioned by
dbSNPrs387906898
ebirs387906898
HLIrs387906898
Exacrs387906898
Varsomers387906898
Maprs387906898
PheGenIrs387906898
hapmaprs387906898
1000 genomesrs387906898
hgdprs387906898
ensemblrs387906898
gopubmedrs387906898
geneviewrs387906898
scholarrs387906898
googlers387906898
pharmgkbrs387906898
gwascentralrs387906898
openSNPrs387906898
23andMers387906898
23andMe allrs387906898
SNP Nexus

SNPshotrs387906898
SNPdbers387906898
MSV3drs387906898
GWAS Ctlgrs387906898
Max Magnitude0
ClinVar
Risk rs387906898(T;T)
Alt rs387906898(T;T)
Reference rs387906898(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 17
Variation info
Gene JPH2
CLNDBN Familial hypertrophic cardiomyopathy 17
Reversed 1
HGVS NC_000020.10:g.42788933G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023410.2,