rs72551353
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72551353(C;T) |
Make rs72551353(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 233768259 |
Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
is a | snp |
is | mentioned by |
dbSNP | rs72551353 |
dbSNP (classic) | rs72551353 |
ClinGen | rs72551353 |
ebi | rs72551353 |
HLI | rs72551353 |
Exac | rs72551353 |
Gnomad | rs72551353 |
Varsome | rs72551353 |
LitVar | rs72551353 |
Map | rs72551353 |
PheGenI | rs72551353 |
Biobank | rs72551353 |
1000 genomes | rs72551353 |
hgdp | rs72551353 |
ensembl | rs72551353 |
geneview | rs72551353 |
scholar | rs72551353 |
rs72551353 | |
pharmgkb | rs72551353 |
gwascentral | rs72551353 |
openSNP | rs72551353 |
23andMe | rs72551353 |
SNPshot | rs72551353 |
SNPdbe | rs72551353 |
MSV3d | rs72551353 |
GWAS Ctlg | rs72551353 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72551353(T;T) |
Alt | rs72551353(T;T) |
Reference | Rs72551353(C;C) |
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.234676905C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013054.16, |