rs132630331
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs132630331(A;G) |
Make rs132630331(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 30707584 |
Gene | GK |
is a | snp |
is | mentioned by |
dbSNP | rs132630331 |
dbSNP (classic) | rs132630331 |
ClinGen | rs132630331 |
ebi | rs132630331 |
HLI | rs132630331 |
Exac | rs132630331 |
Gnomad | rs132630331 |
Varsome | rs132630331 |
LitVar | rs132630331 |
Map | rs132630331 |
PheGenI | rs132630331 |
Biobank | rs132630331 |
1000 genomes | rs132630331 |
hgdp | rs132630331 |
ensembl | rs132630331 |
geneview | rs132630331 |
scholar | rs132630331 |
rs132630331 | |
pharmgkb | rs132630331 |
gwascentral | rs132630331 |
openSNP | rs132630331 |
23andMe | rs132630331 |
SNPshot | rs132630331 |
SNPdbe | rs132630331 |
MSV3d | rs132630331 |
GWAS Ctlg | rs132630331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs132630331(G;G) |
Alt | rs132630331(G;G) |
Reference | Rs132630331(A;A) |
Significance | Pathogenic |
Disease | Deficiency of glycerol kinase |
Variation | info |
Gene | GK |
CLNDBN | Deficiency of glycerol kinase |
Reversed | 0 |
HGVS | NC_000023.10:g.30725701A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011695.4, |