rs587776765
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587776765(C;T) |
Make rs587776765(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 233760432 |
Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
is a | snp |
is | mentioned by |
dbSNP | rs587776765 |
dbSNP (classic) | rs587776765 |
ClinGen | rs587776765 |
ebi | rs587776765 |
HLI | rs587776765 |
Exac | rs587776765 |
Gnomad | rs587776765 |
Varsome | rs587776765 |
LitVar | rs587776765 |
Map | rs587776765 |
PheGenI | rs587776765 |
Biobank | rs587776765 |
1000 genomes | rs587776765 |
hgdp | rs587776765 |
ensembl | rs587776765 |
geneview | rs587776765 |
scholar | rs587776765 |
rs587776765 | |
pharmgkb | rs587776765 |
gwascentral | rs587776765 |
openSNP | rs587776765 |
23andMe | rs587776765 |
SNPshot | rs587776765 |
SNPdbe | rs587776765 |
MSV3d | rs587776765 |
GWAS Ctlg | rs587776765 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776765(T;T) |
Alt | rs587776765(T;T) |
Reference | Rs587776765(C;C) |
Significance | Pathogenic |
Disease | Crigler Najjar syndrome |
Variation | info |
Gene | UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7 |
CLNDBN | Crigler Najjar syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.234669078C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013069.25, |