rs140740776
From SNPedia
Orientation | plus |
Stabilized | 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 |
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, |