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rs281865418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865418(C;G)
Make rs281865418(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position233761127
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs281865418
dbSNP (classic)rs281865418
ClinGenrs281865418
ebirs281865418
HLIrs281865418
Exacrs281865418
Gnomadrs281865418
Varsomers281865418
LitVarrs281865418
Maprs281865418
PheGenIrs281865418
Biobankrs281865418
1000 genomesrs281865418
hgdprs281865418
ensemblrs281865418
geneviewrs281865418
scholarrs281865418
googlers281865418
pharmgkbrs281865418
gwascentralrs281865418
openSNPrs281865418
23andMers281865418
SNPshotrs281865418
SNPdbers281865418
MSV3drs281865418
GWAS Ctlgrs281865418
Max Magnitude0
ClinVar
Risk rs281865418(A;A) rs281865418(G;G)
Alt rs281865418(A;A) rs281865418(G;G)
Reference Rs281865418(C;C)
Significance Pathogenic
Disease Crigler Najjar syndrome
Variation info
Gene UGT1A5 UGT1A3 UGT1A9 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7
CLNDBN Crigler Najjar syndrome, type 1
Reversed 0
HGVS NC_000002.11:g.234669773C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013061.25,