rs869025309
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869025309(C;T) |
Make rs869025309(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 131941630 |
Gene | PUS1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025309 |
dbSNP (classic) | rs869025309 |
ClinGen | rs869025309 |
ebi | rs869025309 |
HLI | rs869025309 |
Exac | rs869025309 |
Gnomad | rs869025309 |
Varsome | rs869025309 |
LitVar | rs869025309 |
Map | rs869025309 |
PheGenI | rs869025309 |
Biobank | rs869025309 |
1000 genomes | rs869025309 |
hgdp | rs869025309 |
ensembl | rs869025309 |
geneview | rs869025309 |
scholar | rs869025309 |
rs869025309 | |
pharmgkb | rs869025309 |
gwascentral | rs869025309 |
openSNP | rs869025309 |
23andMe | rs869025309 |
SNPshot | rs869025309 |
SNPdbe | rs869025309 |
MSV3d | rs869025309 |
GWAS Ctlg | rs869025309 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025309(T;T) |
Alt | rs869025309(T;T) |
Reference | Rs869025309(C;C) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | PUS1 |
CLNDBN | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.132426175C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000207447.1, |