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rs4124874

From SNPedia

Orientationminus
Stabilizedminus
Make rs4124874(A;A)
Make rs4124874(A;C)
Make rs4124874(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position233757013
GeneLOC100286922, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
is asnp
is mentioned by
dbSNPrs4124874
dbSNP (classic)rs4124874
ClinGenrs4124874
ebirs4124874
HLIrs4124874
Exacrs4124874
Gnomadrs4124874
Varsomers4124874
LitVarrs4124874
Maprs4124874
PheGenIrs4124874
Biobankrs4124874
1000 genomesrs4124874
hgdprs4124874
ensemblrs4124874
geneviewrs4124874
scholarrs4124874
googlers4124874
pharmgkbrs4124874
gwascentralrs4124874
openSNPrs4124874
23andMers4124874
SNPshotrs4124874
SNPdbers4124874
MSV3drs4124874
GWAS Ctlgrs4124874
GMAF0.4968
Max Magnitude0
? (A;A) (A;C) (C;C) 28


The (C;C) genotype is linked to reduced UGT1A1 activity, and increased Bilirubin, except in people of African origin for whom the T allele is a risk factor for breast cancer.


[PMID 17424838] [Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning].

[PMID 17498780] The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers.

[PMID 18992148OA-icon.png] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

[PMID 19267064] [Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer].

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


ClinVar
Risk rs4124874(C;C)
Alt rs4124874(C;C)
Reference rs4124874(A;A)
Significance Other
Disease Gilbert syndrome
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 LOC100286922 UGT1A8 UGT1A10 UGT1A7
CLNDBN Gilbert syndrome, susceptibility to
Reversed 1
HGVS NC_000002.11:g.234665659T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013082.3,