rs796052133
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796052133(-;-) |
Make rs796052133(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2118760 |
Gene | PKD1 |
is a | snp |
is | mentioned by |
dbSNP | rs796052133 |
dbSNP (classic) | rs796052133 |
ClinGen | rs796052133 |
ebi | rs796052133 |
HLI | rs796052133 |
Exac | rs796052133 |
Gnomad | rs796052133 |
Varsome | rs796052133 |
LitVar | rs796052133 |
Map | rs796052133 |
PheGenI | rs796052133 |
Biobank | rs796052133 |
1000 genomes | rs796052133 |
hgdp | rs796052133 |
ensembl | rs796052133 |
geneview | rs796052133 |
scholar | rs796052133 |
rs796052133 | |
pharmgkb | rs796052133 |
gwascentral | rs796052133 |
openSNP | rs796052133 |
23andMe | rs796052133 |
SNPshot | rs796052133 |
SNPdbe | rs796052133 |
MSV3d | rs796052133 |
GWAS Ctlg | rs796052133 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052133(-;-) |
Alt | rs796052133(-;-) |
Reference | Rs796052133(C;C) |
Significance | Pathogenic |
Disease | Polycystic kidney disease |
Variation | info |
Gene | PKD1 |
CLNDBN | Polycystic kidney disease, adult type |
Reversed | 1 |
HGVS | NC_000016.9:g.2168761delG |
CLNSRC | |
CLNACC | RCV000190326.2, |