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rs8330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs8330(C;C)
Make rs8330(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position233772999
GeneMROH2A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
is asnp
is mentioned by
dbSNPrs8330
dbSNP (old)rs8330
ClinGenrs8330
ebirs8330
HLIrs8330
Exacrs8330
Varsomers8330
Maprs8330
PheGenIrs8330
Biobankrs8330
1000 genomesrs8330
hgdprs8330
ensemblrs8330
gopubmedrs8330
geneviewrs8330
scholarrs8330
googlers8330
pharmgkbrs8330
gwascentralrs8330
openSNPrs8330
23andMers8330
23andMe allrs8330
SNP Nexus

SNPshotrs8330
SNPdbers8330
MSV3drs8330
GWAS Ctlgrs8330
Max Magnitude0
? (C;C) (C;G) (G;G) 28
[PMID 24856997] [Mutations in UGT1A1 gene in neonates with hyperbilirubinemia of Guangxi Heiyi Zhuang nationality]


ClinVar
Risk rs8330(C;C)
Alt rs8330(C;C)
Reference Rs8330(G;G)
Significance Non-pathogenic
Disease Crigler-Najjar syndrome Hyperbilirubinemia transient familial neonatal Gilbert's syndrome
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7
CLNDBN Crigler-Najjar syndrome Hyperbilirubinemia transient familial neonatal Gilbert's syndrome
Reversed 0
HGVS NC_000002.11:g.234681645G>C
CLNSRC
CLNACC RCV000303713.1, RCV000358476.1, RCV000406231.1,