rs398122932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AGG) | 5 | Polycystic kidney disease, autosomal dominant form (predicted) |
(-;GAG) | 5 | Polycystic kidney disease, autosomal dominant form (predicted) |
Make rs398122932(GAG;GAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 88008038 |
Gene | LOC105377325, PKD2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122932 |
dbSNP (classic) | rs398122932 |
ClinGen | rs398122932 |
ebi | rs398122932 |
HLI | rs398122932 |
Exac | rs398122932 |
Gnomad | rs398122932 |
Varsome | rs398122932 |
LitVar | rs398122932 |
Map | rs398122932 |
PheGenI | rs398122932 |
Biobank | rs398122932 |
1000 genomes | rs398122932 |
hgdp | rs398122932 |
ensembl | rs398122932 |
geneview | rs398122932 |
scholar | rs398122932 |
rs398122932 | |
pharmgkb | rs398122932 |
gwascentral | rs398122932 |
openSNP | rs398122932 |
23andMe | rs398122932 |
SNPshot | rs398122932 |
SNPdbe | rs398122932 |
MSV3d | rs398122932 |
GWAS Ctlg | rs398122932 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs398122932(GAG;GAG) |
Alt | rs398122932(GAG;GAG) |
Reference | Rs398122932(-;-) |
Significance | Pathogenic |
Disease | Polycystic kidney disease 2 |
Variation | info |
Gene | PKD2 |
CLNDBN | Polycystic kidney disease 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.88929190_88929191insGAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033173.26, |