rs4148323

A SNP in the UGT1A1 gene on chromosome 2. Its most notable genotype is A;A: homozygous for UGT1A1*6

Gene
UGT1A1
Location
Chr 2233,760,498 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
5%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot ratedhomozygous for UGT1A1*6Typical · 0.01% of people
  2. A;GNot ratedcarrier of 1 UGT1A1*6 alleleTypical · 0.014% of people
  3. G;GGoodnormalTypical · 0.085% of people

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 7 HapMap populations.

  • AverageA;A 1% A;G 14% G;G 85%
  • European ancestry (Utah)A;A 0% A;G 0% G;G 100%
  • Han Chinese (Beijing)A;A 2% A;G 37% G;G 61%
  • Japanese (Tokyo)A;A <1% A;G 24% G;G 75%
  • Yoruba (Nigeria)A;A 0% A;G 0% G;G 100%
  • Chinese (Denver)A;A 5% A;G 24% G;G 71%
  • Gujarati IndianA;A 0% A;G 4% G;G 96%
  • Mexican ancestry (Los Angeles)A;A 0% A;G 5% G;G 95%

Conditions, medicines and genes

Notes

From SNPedia

Notes

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. rs4148323(A) in exon 1 of the UGT1A1 gene is associated with hyperbilirubinemia. rs4148323 and several other nearby SNPs help predict serum total bilirubin levels, based on a study of 750 Japanese.

Source and license

Adapted from rs4148323 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.