rs34116584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs34116584(C;T) |
Make rs34116584(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240868897 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs34116584 |
dbSNP (classic) | rs34116584 |
ClinGen | rs34116584 |
ebi | rs34116584 |
HLI | rs34116584 |
Exac | rs34116584 |
Gnomad | rs34116584 |
Varsome | rs34116584 |
LitVar | rs34116584 |
Map | rs34116584 |
PheGenI | rs34116584 |
Biobank | rs34116584 |
1000 genomes | rs34116584 |
hgdp | rs34116584 |
ensembl | rs34116584 |
geneview | rs34116584 |
scholar | rs34116584 |
rs34116584 | |
pharmgkb | rs34116584 |
gwascentral | rs34116584 |
openSNP | rs34116584 |
23andMe | rs34116584 |
SNPshot | rs34116584 |
SNPdbe | rs34116584 |
MSV3d | rs34116584 |
GWAS Ctlg | rs34116584 |
GMAF | 0.1084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34116584(A;A) rs34116584(G;G) rs34116584(T;T) |
Alt | rs34116584(A;A) rs34116584(G;G) rs34116584(T;T) |
Reference | Rs34116584(C;C) |
Significance | Other |
Disease | Primary hyperoxaluria not specified Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I not specified Primary hyperoxaluria |
Reversed | 0 |
HGVS | NC_000002.11:g.241808314C>A; NC_000002.11:g.241808314C>G; NC_000002.11:g.241808314C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000186220.1, RCV000186275.1, RCV000005995.7, RCV000173049.2, RCV000290977.1, |
[PMID 22868256] A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen.