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rs72551350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72551350(C;T)
Make rs72551350(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position233767921
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs72551350
dbSNP (classic)rs72551350
ClinGenrs72551350
ebirs72551350
HLIrs72551350
Exacrs72551350
Gnomadrs72551350
Varsomers72551350
LitVarrs72551350
Maprs72551350
PheGenIrs72551350
Biobankrs72551350
1000 genomesrs72551350
hgdprs72551350
ensemblrs72551350
geneviewrs72551350
scholarrs72551350
googlers72551350
pharmgkbrs72551350
gwascentralrs72551350
openSNPrs72551350
23andMers72551350
23andMe allrs72551350
SNPshotrs72551350
SNPdbers72551350
MSV3drs72551350
GWAS Ctlgrs72551350
Max Magnitude0
ClinVar
Risk rs72551350(T;T)
Alt rs72551350(T;T)
Reference Rs72551350(C;C)
Significance Pathogenic
Disease Crigler-Najjar syndrome
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7
CLNDBN Crigler-Najjar syndrome
Reversed 0
HGVS NC_000002.11:g.234676567C>T
CLNSRC
CLNACC RCV000378373.1,