rs1057516990
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057516990(-;-) |
Make rs1057516990(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 37429753 |
Gene | GRHPR |
is a | snp |
is | mentioned by |
dbSNP | rs1057516990 |
dbSNP (classic) | rs1057516990 |
ClinGen | rs1057516990 |
ebi | rs1057516990 |
HLI | rs1057516990 |
Exac | rs1057516990 |
Gnomad | rs1057516990 |
Varsome | rs1057516990 |
LitVar | rs1057516990 |
Map | rs1057516990 |
PheGenI | rs1057516990 |
Biobank | rs1057516990 |
1000 genomes | rs1057516990 |
hgdp | rs1057516990 |
ensembl | rs1057516990 |
geneview | rs1057516990 |
scholar | rs1057516990 |
rs1057516990 | |
pharmgkb | rs1057516990 |
gwascentral | rs1057516990 |
openSNP | rs1057516990 |
23andMe | rs1057516990 |
SNPshot | rs1057516990 |
SNPdbe | rs1057516990 |
MSV3d | rs1057516990 |
GWAS Ctlg | rs1057516990 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516990(-;-) |
Alt | rs1057516990(-;-) |
Reference | Rs1057516990(T;T) |
Significance | Probable-Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | GRHPR |
CLNDBN | Primary hyperoxaluria, type II |
Reversed | 0 |
HGVS | NC_000009.11:g.37429750delT |
CLNSRC | |
CLNACC | RCV000409258.1, |