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

rs8175347

From SNPedia

Orientationplus
Stabilizedplus
ReferenceGRCh38 38.1/141
Chromosome2
Position233760235
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs8175347
ebirs8175347
HLIrs8175347
Exacrs8175347
Varsomers8175347
Maprs8175347
PheGenIrs8175347
hapmaprs8175347
1000 genomesrs8175347
hgdprs8175347
ensemblrs8175347
gopubmedrs8175347
geneviewrs8175347
scholarrs8175347
googlers8175347
pharmgkbrs8175347
gwascentralrs8175347
openSNPrs8175347
23andMers8175347
23andMe allrs8175347
SNP Nexus

SNPshotrs8175347
SNPdbers8175347
MSV3drs8175347
GWAS Ctlgrs8175347
Max Magnitude
The rs8175347 SNP consists of variation of a short (TA)(n) repeat sequence covering the TATA box of the UGT1A1 UDP-glucuronosyltransferase1A1 gene. This SNP is associated with hyperbilirubinaemia (Gilbert's syndrome) and adverse drug reactions, and is used for dosage advice for irinotecan. The low-activity (risk) alleles are rs8175347(TA)7 and (TA)8.



[PMID 21309756] Prevalence of clinically relevant UGT1A alleles and haplotypes in African populations

[PMID 22050734] UGT1A1*28 variant allele is a predictor of severe hyperbilirubinemia in HIV-infected patients on HAART in southern Brazil[PMID 18349273] UGT1A1 genetic polymorphisms, endogenous estrogen exposure, soy food intake, and endometrial cancer risk.

[PMID 19414484OA-icon.png] Genome-wide association meta-analysis for total serum bilirubin levels.

[PMID 19482841OA-icon.png] Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.

[PMID 20389299OA-icon.png] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.

[PMID 22580719] UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms versus neonatal hyperbilirubinemia: is there an association? [PMID 22633539OA-icon.png] Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.

[PMID 25086287] Genetic variation underlying common hereditary hyperbilirubinaemia (Gilbert's syndrome) and respiratory health in the 1946 British birth cohort

[PMID 24865931] Combined effects of the UGT1A1 and OATP2 gene polymorphisms as major risk factor for unconjugated hyperbilirubinemia in Indian neonates

[PMID 26413716OA-icon.png] A GWAS Study on Liver Function Test Using eMERGE Network Participants