rs121908520
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121908520(C;C) |
Make rs121908520(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240873995 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs121908520 |
dbSNP (classic) | rs121908520 |
ClinGen | rs121908520 |
ebi | rs121908520 |
HLI | rs121908520 |
Exac | rs121908520 |
Gnomad | rs121908520 |
Varsome | rs121908520 |
LitVar | rs121908520 |
Map | rs121908520 |
PheGenI | rs121908520 |
Biobank | rs121908520 |
1000 genomes | rs121908520 |
hgdp | rs121908520 |
ensembl | rs121908520 |
geneview | rs121908520 |
scholar | rs121908520 |
rs121908520 | |
pharmgkb | rs121908520 |
gwascentral | rs121908520 |
openSNP | rs121908520 |
23andMe | rs121908520 |
SNPshot | rs121908520 |
SNPdbe | rs121908520 |
MSV3d | rs121908520 |
GWAS Ctlg | rs121908520 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908520(C;C) |
Alt | rs121908520(C;C) |
Reference | Rs121908520(T;T) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria not provided |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.241813412T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005994.5, RCV000420710.1, |