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rs72551353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72551353(C;T)
Make rs72551353(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position233768259
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs72551353
dbSNP (classic)rs72551353
ClinGenrs72551353
ebirs72551353
HLIrs72551353
Exacrs72551353
Gnomadrs72551353
Varsomers72551353
LitVarrs72551353
Maprs72551353
PheGenIrs72551353
Biobankrs72551353
1000 genomesrs72551353
hgdprs72551353
ensemblrs72551353
geneviewrs72551353
scholarrs72551353
googlers72551353
pharmgkbrs72551353
gwascentralrs72551353
openSNPrs72551353
23andMers72551353
SNPshotrs72551353
SNPdbers72551353
MSV3drs72551353
GWAS Ctlgrs72551353
Max Magnitude0
ClinVar
Risk rs72551353(T;T)
Alt rs72551353(T;T)
Reference Rs72551353(C;C)
Significance Pathogenic
Disease Crigler Najjar syndrome
Variation info
Gene UGT1A5 UGT1A3 UGT1A9 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7
CLNDBN Crigler Najjar syndrome, type 1
Reversed 0
HGVS NC_000002.11:g.234676905C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013054.16,