Have questions? Visit https://www.reddit.com/r/SNPedia

rs140740776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140740776(C;T)
Make rs140740776(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44116162
GeneJPH2
is asnp
is mentioned by
dbSNPrs140740776
ebirs140740776
HLIrs140740776
Exacrs140740776
Varsomers140740776
Maprs140740776
PheGenIrs140740776
hapmaprs140740776
1000 genomesrs140740776
hgdprs140740776
ensemblrs140740776
gopubmedrs140740776
geneviewrs140740776
scholarrs140740776
googlers140740776
pharmgkbrs140740776
gwascentralrs140740776
openSNPrs140740776
23andMers140740776
23andMe allrs140740776
SNP Nexus

SNPshotrs140740776
SNPdbers140740776
MSV3drs140740776
GWAS Ctlgrs140740776
GMAF0.01286
Max Magnitude0
ClinVar
Risk rs140740776(G,T;G,T)
Alt rs140740776(G,T;G,T)
Reference rs140740776(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 17 not specified Hypertrophic cardiomyopathy
Variation info
Gene JPH2
CLNDBN Familial hypertrophic cardiomyopathy 17 not specified Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000020.10:g.42744802C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000023411.2, RCV000082005.5, RCV000205170.2,