rs34983651

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)		normal
(-;AT)		some effects of higher bilirubin
(AT;AT)		effects of higher bilirubin; irinotecan toxicity

Reference

GRCh38 38.1/141

Chromosome

2

Position

233760233

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

is a	snp
is	mentioned by
dbSNP	rs34983651
dbSNP (classic)	rs34983651
ClinGen	rs34983651
ebi	rs34983651
HLI	rs34983651
Exac	rs34983651
Gnomad	rs34983651
Varsome	rs34983651
LitVar	rs34983651
Map	rs34983651
PheGenI	rs34983651
Biobank	rs34983651
1000 genomes	rs34983651
hgdp	rs34983651
ensembl	rs34983651
geneview	rs34983651
scholar	rs34983651
google	rs34983651
pharmgkb	rs34983651
gwascentral	rs34983651
openSNP	rs34983651
23andMe	rs34983651
SNPshot	rs34983651
SNPdbe	rs34983651
MSV3d	rs34983651
GWAS Ctlg	rs34983651

Max Magnitude

0

rs34983651 is one of four SNPs all describing an insertion/deletion polymorphism in the promoter region of the UGT1A1 gene; the primary entry in SNPedia for this set of SNPs is at rs34815109. Futhermore, several of these SNPs now have been merged by dbSNP to rs3064744.

The other two SNPs (besides rs34815109) that also describe the same polymorphism are:

• rs35600288
• rs5839491

Note: DNA testing companies reporting genotypes as "II", "DI" or "DD" for this SNP may vary in how they define those terms for this SNP. In general, based on Promethease user data, it appears as if Ancestry's v2c and v2d chips interpret the normal allele as "D", whereas 23andMe v2-v4 chips interpret it as "I". These chips (v2-v4) appear to have false negatives for this SNP, and this SNP is not reported on the v5 chip.