rs140740776

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs140740776(C;T)

Make rs140740776(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44116162

Gene

JPH2

is a	snp
is	mentioned by
dbSNP	rs140740776
dbSNP (classic)	rs140740776
ClinGen	rs140740776
ebi	rs140740776
HLI	rs140740776
Exac	rs140740776
Gnomad	rs140740776
Varsome	rs140740776
LitVar	rs140740776
Map	rs140740776
PheGenI	rs140740776
Biobank	rs140740776
1000 genomes	rs140740776
hgdp	rs140740776
ensembl	rs140740776
geneview	rs140740776
scholar	rs140740776
google	rs140740776
pharmgkb	rs140740776
gwascentral	rs140740776
openSNP	rs140740776
23andMe	rs140740776
SNPshot	rs140740776
SNPdbe	rs140740776
MSV3d	rs140740776
GWAS Ctlg	rs140740776

GMAF

0.01286

Max Magnitude

0

JPH2 gene, c.1513G>A, p.Gly505Ser, G505S

This variant is cited in [PMID 27532831 ] as being originally misclassified but now very likely to be benign based on an assessment of diverse populations.

ClinVar
Risk	rs140740776(G;G) rs140740776(T;T)
Alt	rs140740776(G;G) rs140740776(T;T)
Reference	Rs140740776(C;C)
Significance	Non-pathogenic
Disease	Familial hypertrophic cardiomyopathy 17 not specified Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	JPH2
CLNDBN	Familial hypertrophic cardiomyopathy 17 not specified Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	0
HGVS	NC_000020.10:g.42744802C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023411.2, RCV000082005.5, RCV000205170.2, RCV000244391.1,