rs8330
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs8330(C;C) |
Make rs8330(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 233772999 |
Gene | MROH2A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 |
is a | snp |
is | mentioned by |
dbSNP | rs8330 |
dbSNP (classic) | rs8330 |
ClinGen | rs8330 |
ebi | rs8330 |
HLI | rs8330 |
Exac | rs8330 |
Gnomad | rs8330 |
Varsome | rs8330 |
LitVar | rs8330 |
Map | rs8330 |
PheGenI | rs8330 |
Biobank | rs8330 |
1000 genomes | rs8330 |
hgdp | rs8330 |
ensembl | rs8330 |
geneview | rs8330 |
scholar | rs8330 |
rs8330 | |
pharmgkb | rs8330 |
gwascentral | rs8330 |
openSNP | rs8330 |
23andMe | rs8330 |
SNPshot | rs8330 |
SNPdbe | rs8330 |
MSV3d | rs8330 |
GWAS Ctlg | rs8330 |
Max Magnitude | 0 |
? | (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, |