{{Rsnum
|rsid=4148323
|Gene=UGT1A1
|Chromosome=2
|position=233760498
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.05234
|Gene_s=UGT1A1,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UGT1A10
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 2.2 | 37.2 | 60.6
| JPT | 0.9 | 24.1 | 75.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 2.2 | 37.2 | 60.6
| CHD | 4.7 | 24.3 | 71.0
| GIH | 0.0 | 4.0 | 96.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 5.3 | 94.7
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

Something seems wrong between [[dbSNP]] and the results from [[23andMe]] and [[FTDNA]]. See [[Talk:Rs4148323]] for more information.

[[rs4148323]], a SNP also known as 211G>A or G71R, occurs in the [[UGT1A1]] gene, and defines the UGT1A1*6 allele. This allele is associated with [[Gilbert's syndrome]] among Asians, [[Crigler-Najjar syndrome]] type II (CN-II), and transient familial neonatal [[hyperbilirubinemia]].

{{PMID|19243019}} [[rs4148323]](A) in exon 1 of the [[UGT1A1]] gene is associated with [[hyperbilirubinemia]].

{{PMID|19343046}} [[rs4148323]] and several other nearby SNPs help predict serum total bilirubin levels, based on a study of 750 Japanese.

{{PMID Auto
|PMID=19238116
|Title=Common variants of four bilirubin metabolism genes and their association with serum bilirubin and coronary artery disease in Chinese Han population
}}

{{PharmGKB
|RSID=rs4148323
|Name_s=UGT1A1*6;UGT1A1:211G>A;UGT1A1:Gly71Arg
|Gene_s=UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A1
|Feature=Intron, Intron, Intron, Intron, Intron, Intron, Intron, Intron, Exon/NonSyn
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/ugt1a1/variant.jsp
|Annotation=*6 is the most common UGT1A1 coding variant found in Asians. It may result in reduced capacity to metabolize irinotecan and hence irinotecan toxicity.
|Drugs=irinotecan
|Drug Classes=
|Diseases=Gilbert's syndrome
|Curation Level=In-Depth
|PharmGKB Accession ID=PA162263494
}}

{{PMID Auto
|PMID=20639394
|Title=Genome-wide association of serum bilirubin levels in Korean population
|OA=1
}}

{{PharmGKB
|RSID=rs4148323
|Name_s=UGT1A1*6; UGT1A1:G211A; UGT1A1: G71R
|Gene_s=UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A1
|Feature=Intron, Intron, Intron, Intron, Intron, Intron, Intron, Intron, Exon/NonSyn
|Evidence=PubMed ID:15179404; PubMed ID:15179405; PubMed ID:17558305; PubMed ID:9630669; PubMed ID:9784835
|Annotation=Associated with reduced AUC ratio of SN38G/SN38 in combination with *60 (*6/*60) or *28 (*6/*28) and associated with neutropenia in Japanese. UGT1A1*6 is more prevalent than UGT1A1*28 in asian population, thus especially important for irinotecan induced toxicity in asian. It is associated with Gilbert's syndrome among asians, Crigler-Najjar syndrome type II (CN-II) and transient familial neonatal hyperbilirubinemia. It is the most common coding variant in Asians.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145124
}}

{{omim
|id=191740
|desc=UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
|rsnum=4148323
}}
{{omim
|id=191740
|rsnum=4148323
|variant=0016
}}

{{PMID Auto
|PMID=22514612
|Title=Genetic Variations and Haplotype Diversity of the UGT1 Gene Cluster in the Chinese Population
|OA=1
}}

{{ClinVar
|rsid=4148323
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=234669144
|CHROM=2
|GMAF=0.0522
|dbSNPBuildID=110
|SSR=0
|SAO=1
|VP=0x050178000000150517130101
|GENEINFO=UGT1A5:54579; UGT1A9:54600; UGT1A3:54659; UGT1A6:54578; UGT1A4:54657; UGT1A1:54658; UGT1A8:54576; UGT1A10:54575; UGT1A7:54577
|GENE_NAME=UGT1A5; UGT1A9; UGT1A3; UGT1A6; UGT1A4; UGT1A1; UGT1A8; UGT1A10; UGT1A7
|GENE_ID=54579; 54600; 54659; 54578; 54657; 54658; 54576; 54575; 54577
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.234669144G>A
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=191740.0016
|CLNSIG=255
|CLNCUI=C0017551; C0270210; C1866173
|CLNDBN=Gilbert's syndrome; Hyperbilirubinemia transient familial neonatal; Bilirubin, serum level of, quantitative trait locus 1
|Disease=Gilbert's syndrome; Hyperbilirubinemia transient familial neonatal; Bilirubin
|CLNACC=RCV000013071.23; RCV000022810.23; RCV000022811.1
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9477; 0.05234
|CLNDSDB=MedGen:OMIM:SNOMED_CT; MedGen:OMIM
|CLNDSDBID=C0017551:143500:27503000; C1866173:601816
|CLNORIGIN=1
|COMMON=1
}}

{{PMID Auto
|PMID=17424838
|Title=[Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning].
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

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

{{PMID Auto
|PMID=19482841
|Title=Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.
|OA=1
}}

{{PMID Auto
|PMID=19572200
|Title=Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.
|OA=1
}}

{{PMID Auto
|PMID=20389299
|Title=Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
|OA=1
}}

{{PMID Auto
|PMID=23371916
|Title=A Genome-Wide Association Study for Serum Bilirubin Levels and Gene-Environment Interaction in a Chinese Population
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}