rs372731424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs372731424(C;G) |
Make rs372731424(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23430583 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs372731424 |
dbSNP (classic) | rs372731424 |
ClinGen | rs372731424 |
ebi | rs372731424 |
HLI | rs372731424 |
Exac | rs372731424 |
Gnomad | rs372731424 |
Varsome | rs372731424 |
LitVar | rs372731424 |
Map | rs372731424 |
PheGenI | rs372731424 |
Biobank | rs372731424 |
1000 genomes | rs372731424 |
hgdp | rs372731424 |
ensembl | rs372731424 |
geneview | rs372731424 |
scholar | rs372731424 |
rs372731424 | |
pharmgkb | rs372731424 |
gwascentral | rs372731424 |
openSNP | rs372731424 |
23andMe | rs372731424 |
SNPshot | rs372731424 |
SNPdbe | rs372731424 |
MSV3d | rs372731424 |
GWAS Ctlg | rs372731424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372731424(G;G) rs372731424(T;T) |
Alt | rs372731424(G;G) rs372731424(T;T) |
Reference | Rs372731424(C;C) |
Significance | Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000014.8:g.23899792C>G |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000036015.4, RCV000148710.1, RCV000227951.1, |