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rs72551351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72551351(A;G)
Make rs72551351(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position233767922
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs72551351
ebirs72551351
HLIrs72551351
Exacrs72551351
Varsomers72551351
Maprs72551351
PheGenIrs72551351
hapmaprs72551351
1000 genomesrs72551351
hgdprs72551351
ensemblrs72551351
gopubmedrs72551351
geneviewrs72551351
scholarrs72551351
googlers72551351
pharmgkbrs72551351
gwascentralrs72551351
openSNPrs72551351
23andMers72551351
23andMe allrs72551351
SNP Nexus

SNPshotrs72551351
SNPdbers72551351
MSV3drs72551351
GWAS Ctlgrs72551351
Max Magnitude0
OMIM191740
Desc
Variant0019
Relatedalso


ClinVar
Risk rs72551351(G;G)
Alt rs72551351(G;G)
Reference rs72551351(A;A)
Significance Pathogenic
Disease Crigler Najjar syndrome
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7
CLNDBN Crigler Najjar syndrome, type 1
Reversed 0
HGVS NC_000002.11:g.234676568A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013076.17,