Rs4148323

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Orientationplus
is asnp
is mentioned by
dbSNPrs4148323
PheGenIrs4148323
nextbiors4148323
hapmaprs4148323
1000 genomesrs4148323
hgdprs4148323
ensemblrs4148323
gopubmedrs4148323
geneviewrs4148323
scholarrs4148323
googlers4148323
pharmgkbrs4148323
gwascentralrs4148323
openSNPrs4148323
23andMers4148323
23andMe allrs4148323
SNP Nexus

SNPshotrs4148323
SNPdbers4148323
MSV3drs4148323
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
Chromosome2
Orientationplus
GMAF0.05234
Position233760498
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(A;A) homozygous for UGT1A1*6
(A;G) carrier of 1 UGT1A1*6 allele
(G;G) 0 normal
? (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 20639394OA-icon.png] Genome-wide association of serum bilirubin levels in Korean population


OMIM191740
DescUDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
Variant
Relatedalso
OMIM191740
Desc
Variant0016
Relatedalso
[PMID 22514612OA-icon.png] 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 255
Disease Gilbert's syndrome, Hyperbilirubinemia transient familial neonatal, Bilirubin
ClinVar info, info, info, info, info, info, info, info, info
Gene UGT1A5, UGT1A9, UGT1A3, UGT1A6, UGT1A4, UGT1A1, UGT1A8, UGT1A10, UGT1A7
CLNDBN Gilbert's syndrome, Hyperbilirubinemia transient familial neonatal, Bilirubin, serum level of, quantitative trait locus 1
Reversed 0
CLNHGVS NC_000002.11:g.234669144G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013071.23, RCV000022810.23, RCV000022811.1



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


[PMID 18547414OA-icon.png] 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 19482841OA-icon.png] Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.


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


[PMID 20389299OA-icon.png] 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