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rs587782951

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587782951(A;A)
Make rs587782951(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position44160305
GeneJPH2
is asnp
is mentioned by
dbSNPrs587782951
ebirs587782951
HLIrs587782951
Exacrs587782951
Varsomers587782951
Maprs587782951
PheGenIrs587782951
hapmaprs587782951
1000 genomesrs587782951
hgdprs587782951
ensemblrs587782951
gopubmedrs587782951
geneviewrs587782951
scholarrs587782951
googlers587782951
pharmgkbrs587782951
gwascentralrs587782951
openSNPrs587782951
23andMers587782951
23andMe allrs587782951
SNP Nexus

SNPshotrs587782951
SNPdbers587782951
MSV3drs587782951
GWAS Ctlgrs587782951
Max Magnitude0
ClinVar
Risk rs587782951(A;A)
Alt rs587782951(A;A)
Reference rs587782951(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene JPH2
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000020.10:g.42788945G>T
CLNSRC
CLNACC RCV000143902.3,