rs202047589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202047589(C;T) |
Make rs202047589(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 97599780 |
Gene | HOGA1 |
is a | snp |
is | mentioned by |
dbSNP | rs202047589 |
dbSNP (classic) | rs202047589 |
ClinGen | rs202047589 |
ebi | rs202047589 |
HLI | rs202047589 |
Exac | rs202047589 |
Gnomad | rs202047589 |
Varsome | rs202047589 |
LitVar | rs202047589 |
Map | rs202047589 |
PheGenI | rs202047589 |
Biobank | rs202047589 |
1000 genomes | rs202047589 |
hgdp | rs202047589 |
ensembl | rs202047589 |
geneview | rs202047589 |
scholar | rs202047589 |
rs202047589 | |
pharmgkb | rs202047589 |
gwascentral | rs202047589 |
openSNP | rs202047589 |
23andMe | rs202047589 |
SNPshot | rs202047589 |
SNPdbe | rs202047589 |
MSV3d | rs202047589 |
GWAS Ctlg | rs202047589 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202047589(T;T) |
Alt | rs202047589(T;T) |
Reference | Rs202047589(C;C) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | HOGA1 |
CLNDBN | Primary hyperoxaluria, type III |
Reversed | 0 |
HGVS | NC_000010.10:g.99359537C>T |
CLNSRC | |
CLNACC | RCV000186480.1, |