rs587776762
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTT;CTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TTC;TTC) | 0 | common in clinvar |
Make rs587776762(-;-) |
Make rs587776762(-;CTT) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 233760800 |
Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
is a | snp |
is | mentioned by |
dbSNP | rs587776762 |
dbSNP (classic) | rs587776762 |
ClinGen | rs587776762 |
ebi | rs587776762 |
HLI | rs587776762 |
Exac | rs587776762 |
Gnomad | rs587776762 |
Varsome | rs587776762 |
LitVar | rs587776762 |
Map | rs587776762 |
PheGenI | rs587776762 |
Biobank | rs587776762 |
1000 genomes | rs587776762 |
hgdp | rs587776762 |
ensembl | rs587776762 |
geneview | rs587776762 |
scholar | rs587776762 |
rs587776762 | |
pharmgkb | rs587776762 |
gwascentral | rs587776762 |
openSNP | rs587776762 |
23andMe | rs587776762 |
SNPshot | rs587776762 |
SNPdbe | rs587776762 |
MSV3d | rs587776762 |
GWAS Ctlg | rs587776762 |
Merged from | Rs281875379 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776762(-;-) Rs587776762(TTC;TTC) |
Alt | rs587776762(-;-) Rs587776762(TTC;TTC) |
Reference | Rs587776762(CTT;CTT) |
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.234669446_234669448delCTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013059.24, |