rs1057517216
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057517216(-;-) |
Make rs1057517216(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 37424915 |
Gene | GRHPR |
is a | snp |
is | mentioned by |
dbSNP | rs1057517216 |
dbSNP (classic) | rs1057517216 |
ClinGen | rs1057517216 |
ebi | rs1057517216 |
HLI | rs1057517216 |
Exac | rs1057517216 |
Gnomad | rs1057517216 |
Varsome | rs1057517216 |
LitVar | rs1057517216 |
Map | rs1057517216 |
PheGenI | rs1057517216 |
Biobank | rs1057517216 |
1000 genomes | rs1057517216 |
hgdp | rs1057517216 |
ensembl | rs1057517216 |
geneview | rs1057517216 |
scholar | rs1057517216 |
rs1057517216 | |
pharmgkb | rs1057517216 |
gwascentral | rs1057517216 |
openSNP | rs1057517216 |
23andMe | rs1057517216 |
SNPshot | rs1057517216 |
SNPdbe | rs1057517216 |
MSV3d | rs1057517216 |
GWAS Ctlg | rs1057517216 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517216(-;-) |
Alt | rs1057517216(-;-) |
Reference | Rs1057517216(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | GRHPR |
CLNDBN | Primary hyperoxaluria, type II |
Reversed | 0 |
HGVS | NC_000009.11:g.37424912delG |
CLNSRC | |
CLNACC | RCV000411660.1, |