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rs34983651

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) normal
(-;AT) some effects of higher bilirubin
(AT;AT) effects of higher bilirubin; irinotecan toxicity
ReferenceGRCh38 38.1/141
Chromosome2
Position233760233
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs34983651
dbSNP (classic)rs34983651
ClinGenrs34983651
ebirs34983651
HLIrs34983651
Exacrs34983651
Gnomadrs34983651
Varsomers34983651
LitVarrs34983651
Maprs34983651
PheGenIrs34983651
Biobankrs34983651
1000 genomesrs34983651
hgdprs34983651
ensemblrs34983651
geneviewrs34983651
scholarrs34983651
googlers34983651
pharmgkbrs34983651
gwascentralrs34983651
openSNPrs34983651
23andMers34983651
23andMe allrs34983651
SNPshotrs34983651
SNPdbers34983651
MSV3drs34983651
GWAS Ctlgrs34983651
Max Magnitude0

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:


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.