rs121913636
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs121913636(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23428540 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs121913636 |
dbSNP (classic) | rs121913636 |
ClinGen | rs121913636 |
ebi | rs121913636 |
HLI | rs121913636 |
Exac | rs121913636 |
Gnomad | rs121913636 |
Varsome | rs121913636 |
LitVar | rs121913636 |
Map | rs121913636 |
PheGenI | rs121913636 |
Biobank | rs121913636 |
1000 genomes | rs121913636 |
hgdp | rs121913636 |
ensembl | rs121913636 |
geneview | rs121913636 |
scholar | rs121913636 |
rs121913636 | |
pharmgkb | rs121913636 |
gwascentral | rs121913636 |
openSNP | rs121913636 |
23andMe | rs121913636 |
SNPshot | rs121913636 |
SNPdbe | rs121913636 |
MSV3d | rs121913636 |
GWAS Ctlg | rs121913636 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs121913636(G;G) |
Alt | rs121913636(G;G) |
Reference | Rs121913636(T;T) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 1 |
Variation | info |
Gene | MYH7 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 |
Reversed | 1 |
HGVS | NC_000014.8:g.23897749A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015159.22, |