rs201799893
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201799893(A;A) |
Make rs201799893(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 32104793 |
Gene | SLC5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs201799893 |
dbSNP (classic) | rs201799893 |
ClinGen | rs201799893 |
ebi | rs201799893 |
HLI | rs201799893 |
Exac | rs201799893 |
Gnomad | rs201799893 |
Varsome | rs201799893 |
LitVar | rs201799893 |
Map | rs201799893 |
PheGenI | rs201799893 |
Biobank | rs201799893 |
1000 genomes | rs201799893 |
hgdp | rs201799893 |
ensembl | rs201799893 |
geneview | rs201799893 |
scholar | rs201799893 |
rs201799893 | |
pharmgkb | rs201799893 |
gwascentral | rs201799893 |
openSNP | rs201799893 |
23andMe | rs201799893 |
SNPshot | rs201799893 |
SNPdbe | rs201799893 |
MSV3d | rs201799893 |
GWAS Ctlg | rs201799893 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201799893(A;A) |
Alt | rs201799893(A;A) |
Reference | Rs201799893(G;G) |
Significance | Pathogenic |
Disease | Congenital glucose-galactose malabsorption |
Variation | info |
Gene | SLC5A1 |
CLNDBN | Congenital glucose-galactose malabsorption |
Reversed | 0 |
HGVS | NC_000022.10:g.32500780G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114940.2, |