rs72551348
A SNP in the UGT1A6 gene on chromosome 2. Its most notable genotype is A;G: Carrier of a Crigler-Najjar syndrome mutation
- Gene
- UGT1A6
- Location
- Chr 2233,767,161 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;GMost notableBadCarrier of a Crigler-Najjar syndrome mutation
On SNPedia: (A;A), (A;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Notes
aka c.989A>G (p.Gln330Arg or Q331R) This variant defines the UGT1A1*9 allele, reported to be associated with Crigler-Najjar syndrome type II, a recessively inherited condition. See also OMIM 191740.0005 23andMe name: i5048984
A;G
Unaffected in absence of a second UGT1A1 gene mutation; see text and links via main rs-page
Source and license
Adapted from rs72551348 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.