Have questions? Visit https://www.reddit.com/r/SNPedia

rs34116584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34116584(C;T)
Make rs34116584(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240868897
GeneAGXT
is asnp
is mentioned by
dbSNPrs34116584
ebirs34116584
HLIrs34116584
Exacrs34116584
Varsomers34116584
Maprs34116584
PheGenIrs34116584
hapmaprs34116584
1000 genomesrs34116584
hgdprs34116584
ensemblrs34116584
gopubmedrs34116584
geneviewrs34116584
scholarrs34116584
googlers34116584
pharmgkbrs34116584
gwascentralrs34116584
openSNPrs34116584
23andMers34116584
23andMe allrs34116584
SNP Nexus

SNPshotrs34116584
SNPdbers34116584
MSV3drs34116584
GWAS Ctlgrs34116584
GMAF0.1084
Max Magnitude0
Venter snp
Source plos
Gene AGXT
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103658410358
Disease Association Defects in AGXT are the cause of primary hyperoxaluria type I (PH1) (MIM:259900); also known as oxalosis I. PH1 is a rare autosomal recessive inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and the progressive accumulation of insoluble calcium oxalate in the kidney and urinary tract.



OMIM604285
Desc
Variant0002
Relatedalso


ClinVar
Risk rs34116584(A,G,T;A,G,T)
Alt rs34116584(A,G,T;A,G,T)
Reference rs34116584(C;C)
Significance Other
Disease Primary hyperoxaluria not specified
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I not specified
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
CLNACC RCV000186220.1, RCV000186275.1, RCV000005995.5, RCV000173049.1,



GET Evidence
AGXT-P11L
aa_change Pro11Leu
aa_change_short P11L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.152587
summary



[PMID 22868256OA-icon.png] A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen.