rs111033540
From SNPedia
Merged into | rs28934877 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs111033540(A;G) |
Make rs111033540(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 233768333 |
Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
is a | snp |
is | mentioned by |
dbSNP | rs111033540 |
dbSNP (classic) | rs111033540 |
ClinGen | rs111033540 |
ebi | rs111033540 |
HLI | rs111033540 |
Exac | rs111033540 |
Gnomad | rs111033540 |
Varsome | rs111033540 |
LitVar | rs111033540 |
Map | rs111033540 |
PheGenI | rs111033540 |
Biobank | rs111033540 |
1000 genomes | rs111033540 |
hgdp | rs111033540 |
ensembl | rs111033540 |
geneview | rs111033540 |
scholar | rs111033540 |
rs111033540 | |
pharmgkb | rs111033540 |
gwascentral | rs111033540 |
openSNP | rs111033540 |
23andMe | rs111033540 |
SNPshot | rs111033540 |
SNPdbe | rs111033540 |
MSV3d | rs111033540 |
GWAS Ctlg | rs111033540 |
Status | Merged into rs28934877 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033540(G;G) |
Alt | rs111033540(G;G) |
Reference | Rs111033540(A;A) |
Significance | Pathogenic |
Disease | Crigler-Najjar syndrome Gilbert's syndrome |
Variation | info |
Gene | UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7 |
CLNDBN | Crigler-Najjar syndrome, type II Gilbert's syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.234676979A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000033325.1, SCV000033326.1, |