rs869025485
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(G;G) | 0 | common in clinvar |
Make rs869025485(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 46859573 |
Gene | MYL3 |
is a | snp |
is | mentioned by |
dbSNP | rs869025485 |
dbSNP (classic) | rs869025485 |
ClinGen | rs869025485 |
ebi | rs869025485 |
HLI | rs869025485 |
Exac | rs869025485 |
Gnomad | rs869025485 |
Varsome | rs869025485 |
LitVar | rs869025485 |
Map | rs869025485 |
PheGenI | rs869025485 |
Biobank | rs869025485 |
1000 genomes | rs869025485 |
hgdp | rs869025485 |
ensembl | rs869025485 |
geneview | rs869025485 |
scholar | rs869025485 |
rs869025485 | |
pharmgkb | rs869025485 |
gwascentral | rs869025485 |
openSNP | rs869025485 |
23andMe | rs869025485 |
SNPshot | rs869025485 |
SNPdbe | rs869025485 |
MSV3d | rs869025485 |
GWAS Ctlg | rs869025485 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs869025485(A;A) |
Alt | rs869025485(A;A) |
Reference | Rs869025485(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYL3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000003.11:g.46901063C>T |
CLNSRC | |
CLNACC | RCV000208278.1, |