rs193302888
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193302888(C;T) |
Make rs193302888(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 119027681 |
Gene | SLC37A4 |
is a | snp |
is | mentioned by |
dbSNP | rs193302888 |
dbSNP (classic) | rs193302888 |
ClinGen | rs193302888 |
ebi | rs193302888 |
HLI | rs193302888 |
Exac | rs193302888 |
Gnomad | rs193302888 |
Varsome | rs193302888 |
LitVar | rs193302888 |
Map | rs193302888 |
PheGenI | rs193302888 |
Biobank | rs193302888 |
1000 genomes | rs193302888 |
hgdp | rs193302888 |
ensembl | rs193302888 |
geneview | rs193302888 |
scholar | rs193302888 |
rs193302888 | |
pharmgkb | rs193302888 |
gwascentral | rs193302888 |
openSNP | rs193302888 |
23andMe | rs193302888 |
SNPshot | rs193302888 |
SNPdbe | rs193302888 |
MSV3d | rs193302888 |
GWAS Ctlg | rs193302888 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193302888(T;T) |
Alt | rs193302888(T;T) |
Reference | Rs193302888(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Glucose-6-phosphate transport defect |
Variation | info |
Gene | SLC37A4 |
CLNDBN | not provided Glucose-6-phosphate transport defect |
Reversed | 1 |
HGVS | NC_000011.9:g.118898391G>A |
CLNSRC | UniProtKB (variants) |
CLNACC | RCV000059136.1, RCV000169286.1, |