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rs72551348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72551348(A;G)
Make rs72551348(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position233767161
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs72551348
ebirs72551348
HLIrs72551348
Exacrs72551348
Varsomers72551348
Maprs72551348
PheGenIrs72551348
hapmaprs72551348
1000 genomesrs72551348
hgdprs72551348
ensemblrs72551348
gopubmedrs72551348
geneviewrs72551348
scholarrs72551348
googlers72551348
pharmgkbrs72551348
gwascentralrs72551348
openSNPrs72551348
23andMers72551348
23andMe allrs72551348
SNP Nexus

SNPshotrs72551348
SNPdbers72551348
MSV3drs72551348
GWAS Ctlgrs72551348
Max Magnitude0
OMIM191740
Desc
Variant0005
Relatedalso


ClinVar
Risk rs72551348(G;G)
Alt rs72551348(G;G)
Reference rs72551348(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 II
Reversed 0
HGVS NC_000002.11:g.234675807A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013058.16,