rs1057518604
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 5 | Polycystic Kidney Disease likely, but see discussion |
| (C;C) | 0 | common in clinvar |
| Make rs1057518604(-;-) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 16 |
| Position | 2103688 |
| Gene | PKD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057518604 |
| dbSNP (classic) | rs1057518604 |
| ClinGen | rs1057518604 |
| ebi | rs1057518604 |
| HLI | rs1057518604 |
| Exac | rs1057518604 |
| Gnomad | rs1057518604 |
| Varsome | rs1057518604 |
| LitVar | rs1057518604 |
| Map | rs1057518604 |
| PheGenI | rs1057518604 |
| Biobank | rs1057518604 |
| 1000 genomes | rs1057518604 |
| hgdp | rs1057518604 |
| ensembl | rs1057518604 |
| geneview | rs1057518604 |
| scholar | rs1057518604 |
| rs1057518604 | |
| pharmgkb | rs1057518604 |
| gwascentral | rs1057518604 |
| openSNP | rs1057518604 |
| 23andMe | rs1057518604 |
| SNPshot | rs1057518604 |
| SNPdbe | rs1057518604 |
| MSV3d | rs1057518604 |
| GWAS Ctlg | rs1057518604 |
| Max Magnitude | 5 |
c.8369delC (p.Pro2790Argfs)
It's likely that the variant allele is pathogenic for autosomal dominant polycystic kidney disease, given the way it is listed in ClinVar, however, it's also possible that it's associated with (only) the recessive form; the ClinVar submitter, GeneDX, did not provide additional details. If any expert has evidence indicating which it is associated with (dominant or recessive) please contact us or leave details on the Discussion page for this SNP.
| ClinVar | |
|---|---|
| Risk | rs1057518604(-;-) |
| Alt | rs1057518604(-;-) |
| Reference | Rs1057518604(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PKD1 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.2153689delG |
| CLNSRC | |
| CLNACC | RCV000413759.1, |
