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rs34993780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs34993780(G;G)
Make rs34993780(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position233772413
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs34993780
ebirs34993780
HLIrs34993780
Exacrs34993780
Varsomers34993780
Maprs34993780
PheGenIrs34993780
hapmaprs34993780
1000 genomesrs34993780
hgdprs34993780
ensemblrs34993780
gopubmedrs34993780
geneviewrs34993780
scholarrs34993780
googlers34993780
pharmgkbrs34993780
gwascentralrs34993780
openSNPrs34993780
23andMers34993780
23andMe allrs34993780
SNP Nexus

SNPshotrs34993780
SNPdbers34993780
MSV3drs34993780
GWAS Ctlgrs34993780
GMAF0.0004591
Max Magnitude0
OMIM191740
Desc
Variant0017
Relatedalso
ClinVar
Risk rs34993780(A,C,G;A,C,G)
Alt rs34993780(A,C,G;A,C,G)
Reference rs34993780(T;T)
Significance Pathogenic
Disease Lucey-Driscoll syndrome Crigler-Najjar syndrome Hyperbilirubinemia
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7
CLNDBN Lucey-Driscoll syndrome Crigler-Najjar syndrome, type II Hyperbilirubinemia
Reversed 0
HGVS NC_000002.11:g.234681059T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013073.17, RCV000013074.17, RCV000147900.1,


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