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rs72551341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72551341(A;A)
Make rs72551341(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position233760811
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs72551341
ebirs72551341
HLIrs72551341
Exacrs72551341
Varsomers72551341
Maprs72551341
PheGenIrs72551341
hapmaprs72551341
1000 genomesrs72551341
hgdprs72551341
ensemblrs72551341
gopubmedrs72551341
geneviewrs72551341
scholarrs72551341
googlers72551341
pharmgkbrs72551341
gwascentralrs72551341
openSNPrs72551341
23andMers72551341
23andMe allrs72551341
SNP Nexus

SNPshotrs72551341
SNPdbers72551341
MSV3drs72551341
GWAS Ctlgrs72551341
Max Magnitude0
OMIM191740
Desc
Variant0021
Relatedalso


ClinVar
Risk rs72551341(A;A)
Alt rs72551341(A;A)
Reference rs72551341(T;T)
Significance Pathogenic
Disease Crigler-Najjar syndrome
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7
CLNDBN Crigler-Najjar syndrome, type II
Reversed 0
HGVS NC_000002.11:g.234669457T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013078.16,