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rs1801019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801019(C;C)
Make rs1801019(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position124737895
GeneUMPS
is asnp
is mentioned by
dbSNPrs1801019
ebirs1801019
HLIrs1801019
Exacrs1801019
Varsomers1801019
Maprs1801019
PheGenIrs1801019
hapmaprs1801019
1000 genomesrs1801019
hgdprs1801019
ensemblrs1801019
gopubmedrs1801019
geneviewrs1801019
scholarrs1801019
googlers1801019
pharmgkbrs1801019
gwascentralrs1801019
openSNPrs1801019
23andMers1801019
23andMe allrs1801019
SNP Nexus

SNPshotrs1801019
SNPdbers1801019
MSV3drs1801019
GWAS Ctlgrs1801019
GMAF0.1699
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene UMPS
allele C
frequency 0.15
sift TOLERATED
HuRef 1103656217063
Disease Association Defects in UMPS are a cause of hereditary orotic aciduria (HOA) (MIM:258900); also known as orotic aciduria type 1, a recessive disease characterized by retarded growth, anemia, and excessive urinary excretion of orotic acid.




GET Evidence
UMPS-G213A
aa_change Gly213Ala
aa_change_short G213A
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.165365
summary



ClinVar
Risk rs1801019(C;C)
Alt rs1801019(C;C)
Reference rs1801019(G;G)
Significance Drug-response
Disease not provided tegafur response - Toxicity/ADR capecitabine response - Toxicity/ADR fluorouracil response - Toxicity/ADR leucovorin response - Toxicity/ADR
Variation info
Gene UMPS
CLNDBN not provided tegafur response - Toxicity/ADR capecitabine response - Toxicity/ADR fluorouracil response - Toxicity/ADR leucovorin response - Toxicity/ADR
Reversed 0
HGVS NC_000003.11:g.124456742G>C
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000086510.1, RCV000211224.1, RCV000211228.1, RCV000211351.1, RCV000211405.1,



[PMID 25992311OA-icon.png] Genetic variants and risk of gastric cancer: a pathway analysis of a genome-wide association study