rs431905509
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs431905509(C;G) |
Make rs431905509(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 19176222 |
Gene | SLC25A1 |
is a | snp |
is | mentioned by |
dbSNP | rs431905509 |
dbSNP (classic) | rs431905509 |
ClinGen | rs431905509 |
ebi | rs431905509 |
HLI | rs431905509 |
Exac | rs431905509 |
Gnomad | rs431905509 |
Varsome | rs431905509 |
LitVar | rs431905509 |
Map | rs431905509 |
PheGenI | rs431905509 |
Biobank | rs431905509 |
1000 genomes | rs431905509 |
hgdp | rs431905509 |
ensembl | rs431905509 |
geneview | rs431905509 |
scholar | rs431905509 |
rs431905509 | |
pharmgkb | rs431905509 |
gwascentral | rs431905509 |
openSNP | rs431905509 |
23andMe | rs431905509 |
SNPshot | rs431905509 |
SNPdbe | rs431905509 |
MSV3d | rs431905509 |
GWAS Ctlg | rs431905509 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431905509(G;G) rs431905509(T;T) |
Alt | rs431905509(G;G) rs431905509(T;T) |
Reference | Rs431905509(C;C) |
Significance | Pathogenic |
Disease | Combined d-2- and l-2-hydroxyglutaric aciduria |
Variation | info |
Gene | SLC25A1 |
CLNDBN | Combined d-2- and l-2-hydroxyglutaric aciduria |
Reversed | 1 |
HGVS | NC_000022.10:g.19163735G>A; NC_000022.10:g.19163735G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000035018.25, RCV000035017.25, |