RS4148323 UGT1A10

Drug Response Chr 2:233760497 snv missense variant

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What This Variant Does

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Associated Conditions

Gilbert syndrome

BILIRUBIN

SERUM LEVEL OF

QUANTITATIVE TRAIT LOCUS 1

Lucey-Driscoll syndrome

Irinotecan response

Crigler-Najjar syndrome

type II

Crigler-Najjar syndrome type 1

UGT1A1-related disorder

Gilbert syndrome

BILIRUBIN

SERUM LEVEL OF

QUANTITATIVE TRAIT LOCUS 1

Lucey-Driscoll syndrome

GWAS Studies (5)

Trait	Risk Allele	OR / Beta	P-value	Study
Bilirubin levels	—	OR: 0.14	3E-139	PubMed
Bilirubin levels	—	OR: 0.11	5E-69	PubMed
Perinatal jaundice (PheCode 656.8)	—	—	5E-22	PubMed
Total bilirubin levels	A	OR: 0.3	2E-11	PubMed
Other perinatal conditions of fetus or newborn (PheCode 656)	—	—	1E-9	PubMed

Population Frequencies

gnomAD ALL

0.9%

1kG AFR

99.9%

1kG ALL

96.6%

1kG AMR

1.2%

1kG EAS

13.8%

1kG EUR

99.3%

1kG SAS

1.7%