rs113681235
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs113681235(G;G) |
Make rs113681235(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240869364 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs113681235 |
dbSNP (classic) | rs113681235 |
ClinGen | rs113681235 |
ebi | rs113681235 |
HLI | rs113681235 |
Exac | rs113681235 |
Gnomad | rs113681235 |
Varsome | rs113681235 |
LitVar | rs113681235 |
Map | rs113681235 |
PheGenI | rs113681235 |
Biobank | rs113681235 |
1000 genomes | rs113681235 |
hgdp | rs113681235 |
ensembl | rs113681235 |
geneview | rs113681235 |
scholar | rs113681235 |
rs113681235 | |
pharmgkb | rs113681235 |
gwascentral | rs113681235 |
openSNP | rs113681235 |
23andMe | rs113681235 |
SNPshot | rs113681235 |
SNPdbe | rs113681235 |
MSV3d | rs113681235 |
GWAS Ctlg | rs113681235 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113681235(A;A) rs113681235(G;G) |
Alt | rs113681235(A;A) rs113681235(G;G) |
Reference | Rs113681235(T;T) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241808781T>G |
CLNSRC | |
CLNACC | RCV000186359.1, |