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rs111033541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033541(G;G)
Make rs111033541(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position233760331
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs111033541
dbSNP (classic)rs111033541
ClinGenrs111033541
ebirs111033541
HLIrs111033541
Exacrs111033541
Gnomadrs111033541
Varsomers111033541
LitVarrs111033541
Maprs111033541
PheGenIrs111033541
Biobankrs111033541
1000 genomesrs111033541
hgdprs111033541
ensemblrs111033541
geneviewrs111033541
scholarrs111033541
googlers111033541
pharmgkbrs111033541
gwascentralrs111033541
openSNPrs111033541
23andMers111033541
SNPshotrs111033541
SNPdbers111033541
MSV3drs111033541
GWAS Ctlgrs111033541
Max Magnitude0
OMIM191740
Desc
Variant0023
Relatedalso
ClinVar
Risk rs111033541(G;G)
Alt rs111033541(G;G)
Reference Rs111033541(T;T)
Significance Pathogenic
Disease Crigler-Najjar syndrome
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7
CLNDBN Crigler-Najjar syndrome, type II
Reversed 0
HGVS NC_000002.11:g.234668977T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013081.17,