rs748597500
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs748597500(A;A) |
Make rs748597500(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 73950732 |
Gene | DGUOK |
is a | snp |
is | mentioned by |
dbSNP | rs748597500 |
dbSNP (classic) | rs748597500 |
ClinGen | rs748597500 |
ebi | rs748597500 |
HLI | rs748597500 |
Exac | rs748597500 |
Gnomad | rs748597500 |
Varsome | rs748597500 |
LitVar | rs748597500 |
Map | rs748597500 |
PheGenI | rs748597500 |
Biobank | rs748597500 |
1000 genomes | rs748597500 |
hgdp | rs748597500 |
ensembl | rs748597500 |
geneview | rs748597500 |
scholar | rs748597500 |
rs748597500 | |
pharmgkb | rs748597500 |
gwascentral | rs748597500 |
openSNP | rs748597500 |
23andMe | rs748597500 |
SNPshot | rs748597500 |
SNPdbe | rs748597500 |
MSV3d | rs748597500 |
GWAS Ctlg | rs748597500 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748597500(A;A) |
Alt | rs748597500(A;A) |
Reference | Rs748597500(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | DGUOK |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.74177859G>A |
CLNSRC | |
CLNACC | RCV000197640.1, |