rs796052077
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs796052077(AT;AT) |
Make rs796052077(AT;GC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 37422747 |
Gene | GRHPR |
is a | snp |
is | mentioned by |
dbSNP | rs796052077 |
dbSNP (classic) | rs796052077 |
ClinGen | rs796052077 |
ebi | rs796052077 |
HLI | rs796052077 |
Exac | rs796052077 |
Gnomad | rs796052077 |
Varsome | rs796052077 |
LitVar | rs796052077 |
Map | rs796052077 |
PheGenI | rs796052077 |
Biobank | rs796052077 |
1000 genomes | rs796052077 |
hgdp | rs796052077 |
ensembl | rs796052077 |
geneview | rs796052077 |
scholar | rs796052077 |
rs796052077 | |
pharmgkb | rs796052077 |
gwascentral | rs796052077 |
openSNP | rs796052077 |
23andMe | rs796052077 |
SNPshot | rs796052077 |
SNPdbe | rs796052077 |
MSV3d | rs796052077 |
GWAS Ctlg | rs796052077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052077(AT;AT) |
Alt | rs796052077(AT;AT) |
Reference | Rs796052077(GC;GC) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | GRHPR |
CLNDBN | Primary hyperoxaluria, type II |
Reversed | 0 |
HGVS | NC_000009.11:g.37422744_37422745delGCinsAT |
CLNSRC | |
CLNACC | RCV000186437.1, |