rs281875379
From SNPedia
Merged into | rs587776762 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTC;TTC) | 0 | common in clinvar |
Make rs281875379(-;-) |
Make rs281875379(-;TTC) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 233760798 |
Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
is a | snp |
is | mentioned by |
dbSNP | rs281875379 |
dbSNP (classic) | rs281875379 |
ClinGen | rs281875379 |
ebi | rs281875379 |
HLI | rs281875379 |
Exac | rs281875379 |
Gnomad | rs281875379 |
Varsome | rs281875379 |
LitVar | rs281875379 |
Map | rs281875379 |
PheGenI | rs281875379 |
Biobank | rs281875379 |
1000 genomes | rs281875379 |
hgdp | rs281875379 |
ensembl | rs281875379 |
geneview | rs281875379 |
scholar | rs281875379 |
rs281875379 | |
pharmgkb | rs281875379 |
gwascentral | rs281875379 |
openSNP | rs281875379 |
23andMe | rs281875379 |
SNPshot | rs281875379 |
SNPdbe | rs281875379 |
MSV3d | rs281875379 |
GWAS Ctlg | rs281875379 |
Status | Merged into rs587776762 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs281875379(TTC;TTC) |
Significance | Pathogenic |
Disease | Crigler Najjar syndrome |
Variation | info |
Gene | UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7 |
CLNDBN | Crigler Najjar syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.234669444_234669446delTTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013059.23, |