rs121912669
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121912669(A;G) |
Make rs121912669(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 32043364 |
Gene | SLC5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912669 |
dbSNP (classic) | rs121912669 |
ClinGen | rs121912669 |
ebi | rs121912669 |
HLI | rs121912669 |
Exac | rs121912669 |
Gnomad | rs121912669 |
Varsome | rs121912669 |
LitVar | rs121912669 |
Map | rs121912669 |
PheGenI | rs121912669 |
Biobank | rs121912669 |
1000 genomes | rs121912669 |
hgdp | rs121912669 |
ensembl | rs121912669 |
geneview | rs121912669 |
scholar | rs121912669 |
rs121912669 | |
pharmgkb | rs121912669 |
gwascentral | rs121912669 |
openSNP | rs121912669 |
23andMe | rs121912669 |
SNPshot | rs121912669 |
SNPdbe | rs121912669 |
MSV3d | rs121912669 |
GWAS Ctlg | rs121912669 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912669(G;G) |
Alt | rs121912669(G;G) |
Reference | Rs121912669(A;A) |
Significance | Pathogenic |
Disease | Congenital glucose-galactose malabsorption |
Variation | info |
Gene | SLC5A1 |
CLNDBN | Congenital glucose-galactose malabsorption |
Reversed | 0 |
HGVS | NC_000022.10:g.32439351A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013771.23, |