rs386576623
From SNPedia
Merged into | rs28934877 |
Orientation | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386576623(A;G) |
Make rs386576623(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 233768333 |
Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
is a | snp |
is | mentioned by |
dbSNP | rs386576623 |
dbSNP (classic) | rs386576623 |
ClinGen | rs386576623 |
ebi | rs386576623 |
HLI | rs386576623 |
Exac | rs386576623 |
Gnomad | rs386576623 |
Varsome | rs386576623 |
LitVar | rs386576623 |
Map | rs386576623 |
PheGenI | rs386576623 |
Biobank | rs386576623 |
1000 genomes | rs386576623 |
hgdp | rs386576623 |
ensembl | rs386576623 |
geneview | rs386576623 |
scholar | rs386576623 |
rs386576623 | |
pharmgkb | rs386576623 |
gwascentral | rs386576623 |
openSNP | rs386576623 |
23andMe | rs386576623 |
SNPshot | rs386576623 |
SNPdbe | rs386576623 |
MSV3d | rs386576623 |
GWAS Ctlg | rs386576623 |
Status | Merged into rs28934877 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386576623(G;G) |
Alt | rs386576623(G;G) |
Reference | Rs386576623(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_000002.12:g.233768333A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013079.15, RCV000013080.22, |