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rs111033540

From SNPedia

Merged intors28934877
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033540(A;G)
Make rs111033540(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position233768333
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs111033540
dbSNP (classic)rs111033540
ClinGenrs111033540
ebirs111033540
HLIrs111033540
Exacrs111033540
Gnomadrs111033540
Varsomers111033540
LitVarrs111033540
Maprs111033540
PheGenIrs111033540
Biobankrs111033540
1000 genomesrs111033540
hgdprs111033540
ensemblrs111033540
geneviewrs111033540
scholarrs111033540
googlers111033540
pharmgkbrs111033540
gwascentralrs111033540
openSNPrs111033540
23andMers111033540
SNPshotrs111033540
SNPdbers111033540
MSV3drs111033540
GWAS Ctlgrs111033540
StatusMerged into rs28934877
Max Magnitude0
OMIM191740
Desc
Variant0022
Relatedalso
ClinVar
Risk rs111033540(G;G)
Alt rs111033540(G;G)
Reference Rs111033540(A;A)
Significance Pathogenic
Disease Crigler-Najjar syndrome Gilbert's syndrome
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7
CLNDBN Crigler-Najjar syndrome, type II Gilbert's syndrome
Reversed 0
HGVS NC_000002.11:g.234676979A>G
CLNSRC OMIM Allelic Variant
CLNACC SCV000033325.1, SCV000033326.1,