rs121907894
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121907894(G;T) |
Make rs121907894(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 64598579 |
Gene | SLC22A12 |
is a | snp |
is | mentioned by |
dbSNP | rs121907894 |
dbSNP (classic) | rs121907894 |
ClinGen | rs121907894 |
ebi | rs121907894 |
HLI | rs121907894 |
Exac | rs121907894 |
Gnomad | rs121907894 |
Varsome | rs121907894 |
LitVar | rs121907894 |
Map | rs121907894 |
PheGenI | rs121907894 |
Biobank | rs121907894 |
1000 genomes | rs121907894 |
hgdp | rs121907894 |
ensembl | rs121907894 |
geneview | rs121907894 |
scholar | rs121907894 |
rs121907894 | |
pharmgkb | rs121907894 |
gwascentral | rs121907894 |
openSNP | rs121907894 |
23andMe | rs121907894 |
SNPshot | rs121907894 |
SNPdbe | rs121907894 |
MSV3d | rs121907894 |
GWAS Ctlg | rs121907894 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121907894(A;A) rs121907894(T;T) |
Alt | rs121907894(A;A) rs121907894(T;T) |
Reference | Rs121907894(G;G) |
Significance | Pathogenic |
Disease | Familial renal hypouricemia |
Variation | info |
Gene | SLC22A12 |
CLNDBN | Familial renal hypouricemia |
Reversed | 0 |
HGVS | NC_000011.9:g.64366051G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003691.3, |