rs869312944
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;CAA) | 5 | Polycystic Kidney Disease (predicted) |
| (CAA;CAA) | 0 | common in clinvar |
| Make rs869312944(-;-) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 2100398 |
| Gene | PKD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869312944 |
| dbSNP (classic) | rs869312944 |
| ClinGen | rs869312944 |
| ebi | rs869312944 |
| HLI | rs869312944 |
| Exac | rs869312944 |
| Gnomad | rs869312944 |
| Varsome | rs869312944 |
| LitVar | rs869312944 |
| Map | rs869312944 |
| PheGenI | rs869312944 |
| Biobank | rs869312944 |
| 1000 genomes | rs869312944 |
| hgdp | rs869312944 |
| ensembl | rs869312944 |
| geneview | rs869312944 |
| scholar | rs869312944 |
| rs869312944 | |
| pharmgkb | rs869312944 |
| gwascentral | rs869312944 |
| openSNP | rs869312944 |
| 23andMe | rs869312944 |
| SNPshot | rs869312944 |
| SNPdbe | rs869312944 |
| MSV3d | rs869312944 |
| GWAS Ctlg | rs869312944 |
| Max Magnitude | 5 |
NM_001009944.2:c.9562_9564delAAC and NM_001009944.2:c.9564_9566delCAA
The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database.
| ClinVar | |
|---|---|
| Risk | rs869312944(-;-) |
| Alt | rs869312944(-;-) |
| Reference | Rs869312944(CAA;CAA) |
| Significance | Pathogenic |
| Disease | Inborn genetic diseases |
| Variation | info |
| Gene | PKD1 |
| CLNDBN | Inborn genetic diseases |
| Reversed | 1 |
| HGVS | NC_000016.9:g.2150399_2150401delTTG |
| CLNSRC | |
| CLNACC | RCV000210674.1, |
