rs587776761
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TACATTAATGCTTC;TACATTAATGCTTC) | 0 | common in clinvar |
Make rs587776761(A;A) |
Make rs587776761(A;TACATTAATGCTTC) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 233767046 |
Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
is a | snp |
is | mentioned by |
dbSNP | rs587776761 |
dbSNP (classic) | rs587776761 |
ClinGen | rs587776761 |
ebi | rs587776761 |
HLI | rs587776761 |
Exac | rs587776761 |
Gnomad | rs587776761 |
Varsome | rs587776761 |
LitVar | rs587776761 |
Map | rs587776761 |
PheGenI | rs587776761 |
Biobank | rs587776761 |
1000 genomes | rs587776761 |
hgdp | rs587776761 |
ensembl | rs587776761 |
geneview | rs587776761 |
scholar | rs587776761 |
rs587776761 | |
pharmgkb | rs587776761 |
gwascentral | rs587776761 |
openSNP | rs587776761 |
23andMe | rs587776761 |
SNPshot | rs587776761 |
SNPdbe | rs587776761 |
MSV3d | rs587776761 |
GWAS Ctlg | rs587776761 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776761(A;A) |
Alt | rs587776761(A;A) |
Reference | Rs587776761(TACATTAATGCTTC;TACATTAATGCTTC) |
Significance | Pathogenic |
Disease | Crigler Najjar syndrome |
Variation | info |
Gene | UGT1A5 UGT1A3 UGT1A9 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7 |
CLNDBN | Crigler Najjar syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.234675692_234675705delTACATTAATGCTTCinsA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013053.23, |