rs4148323

plus

Geno	Mag	Summary
(A;A)		homozygous for UGT1A1*6
(A;G)		carrier of 1 UGT1A1*6 allele
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

2

Position

233760498

Gene	UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10

is a	snp
is	mentioned by
dbSNP	rs4148323
dbSNP (classic)	rs4148323
ClinGen	rs4148323
ebi	rs4148323
HLI	rs4148323
Exac	rs4148323
Gnomad	rs4148323
Varsome	rs4148323
LitVar	rs4148323
Map	rs4148323
PheGenI	rs4148323
Biobank	rs4148323
1000 genomes	rs4148323
hgdp	rs4148323
ensembl	rs4148323
geneview	rs4148323
scholar	rs4148323
google	rs4148323
pharmgkb	rs4148323
gwascentral	rs4148323
openSNP	rs4148323
23andMe	rs4148323
SNPshot	rs4148323
SNPdbe	rs4148323
MSV3d	rs4148323
GWAS Ctlg	rs4148323

GMAF

0.05234

Max Magnitude

0

?

(A;A) (A;G) (G;G)

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 19238116] Common variants of four bilirubin metabolism genes and their association with serum bilirubin and coronary artery disease in Chinese Han population

[PMID 20639394 ] Genome-wide association of serum bilirubin levels in Korean population

OMIM	191740
Desc	UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
Variant
Related	also

OMIM	191740
Desc
Variant	0016
Related	also

[PMID 22514612 ] Genetic Variations and Haplotype Diversity of the UGT1 Gene Cluster in the Chinese Population

ClinVar
Risk	Rs4148323(A;A)
Alt	Rs4148323(A;A)
Reference	Rs4148323(G;G)
Significance	Other
Disease	Gilbert's syndrome Hyperbilirubinemia transient familial neonatal Bilirubin not specified Hyperbilirubinemia irinotecan response - Other SN-38 response - Other
Variation	info
Gene	UGT1A5 UGT1A3 UGT1A9 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7
CLNDBN	Gilbert's syndrome Hyperbilirubinemia transient familial neonatal Bilirubin, serum level of, quantitative trait locus 1 not specified Hyperbilirubinemia irinotecan response - Other SN-38 response - Other
Reversed	0
HGVS	NC_000002.11:g.234669144G>A
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation
CLNACC	RCV000013071.27, RCV000022810.24, RCV000022811.2, RCV000173139.2, RCV000192783.1, RCV000211162.1, RCV000211250.1,

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

[PMID 18547414 ] Genotyping panel for assessing response to cancer chemotherapy.

[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 19482841 ] Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.

[PMID 19572200 ] Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.

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

[PMID 23371916] A Genome-Wide Association Study for Serum Bilirubin Levels and Gene-Environment Interaction in a Chinese Population

[PMID 26413716 ] A GWAS Study on Liver Function Test Using eMERGE Network Participants

[PMID 29094205] Association between alanine aminotransferase elevation and UGT1A1*6 polymorphisms in daclatasvir and asunaprevir combination therapy for chronic hepatitis C.