rs180177320
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCCC;CCCC) | 0 | common in clinvar |
Make rs180177320(-;-) |
Make rs180177320(-;CCCC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 37424837 |
Gene | GRHPR |
is a | snp |
is | mentioned by |
dbSNP | rs180177320 |
dbSNP (classic) | rs180177320 |
ClinGen | rs180177320 |
ebi | rs180177320 |
HLI | rs180177320 |
Exac | rs180177320 |
Gnomad | rs180177320 |
Varsome | rs180177320 |
LitVar | rs180177320 |
Map | rs180177320 |
PheGenI | rs180177320 |
Biobank | rs180177320 |
1000 genomes | rs180177320 |
hgdp | rs180177320 |
ensembl | rs180177320 |
geneview | rs180177320 |
scholar | rs180177320 |
rs180177320 | |
pharmgkb | rs180177320 |
gwascentral | rs180177320 |
openSNP | rs180177320 |
23andMe | rs180177320 |
SNPshot | rs180177320 |
SNPdbe | rs180177320 |
MSV3d | rs180177320 |
GWAS Ctlg | rs180177320 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177320(-;-) |
Alt | rs180177320(-;-) |
Reference | Rs180177320(CCCC;CCCC) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | GRHPR |
CLNDBN | Primary hyperoxaluria, type II |
Reversed | 0 |
HGVS | NC_000009.11:g.37424834_37424837delCCCC |
CLNSRC | |
CLNACC | RCV000186453.1, |