rs150634297
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150634297(C;T) |
Make rs150634297(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 46860748 |
Gene | MYL3 |
is a | snp |
is | mentioned by |
dbSNP | rs150634297 |
dbSNP (classic) | rs150634297 |
ClinGen | rs150634297 |
ebi | rs150634297 |
HLI | rs150634297 |
Exac | rs150634297 |
Gnomad | rs150634297 |
Varsome | rs150634297 |
LitVar | rs150634297 |
Map | rs150634297 |
PheGenI | rs150634297 |
Biobank | rs150634297 |
1000 genomes | rs150634297 |
hgdp | rs150634297 |
ensembl | rs150634297 |
geneview | rs150634297 |
scholar | rs150634297 |
rs150634297 | |
pharmgkb | rs150634297 |
gwascentral | rs150634297 |
openSNP | rs150634297 |
23andMe | rs150634297 |
SNPshot | rs150634297 |
SNPdbe | rs150634297 |
MSV3d | rs150634297 |
GWAS Ctlg | rs150634297 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150634297(T;T) |
Alt | rs150634297(T;T) |
Reference | Rs150634297(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYL3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000003.11:g.46902238C>T |
CLNSRC | ClinVar University of Washington |
CLNACC | RCV000148716.1, |