rs1060499718
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;GT) | 5 | Polycystic Kidney Disease (predicted) |
| (GT;GT) | 0 | common in clinvar |
| Make rs1060499718(-;-) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 16 |
| Position | 2090418 |
| Gene | LOC105371049, MIR1225, PKD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1060499718 |
| dbSNP (classic) | rs1060499718 |
| ClinGen | rs1060499718 |
| ebi | rs1060499718 |
| HLI | rs1060499718 |
| Exac | rs1060499718 |
| Gnomad | rs1060499718 |
| Varsome | rs1060499718 |
| LitVar | rs1060499718 |
| Map | rs1060499718 |
| PheGenI | rs1060499718 |
| Biobank | rs1060499718 |
| 1000 genomes | rs1060499718 |
| hgdp | rs1060499718 |
| ensembl | rs1060499718 |
| geneview | rs1060499718 |
| scholar | rs1060499718 |
| rs1060499718 | |
| pharmgkb | rs1060499718 |
| gwascentral | rs1060499718 |
| openSNP | rs1060499718 |
| 23andMe | rs1060499718 |
| SNPshot | rs1060499718 |
| SNPdbe | rs1060499718 |
| MSV3d | rs1060499718 |
| GWAS Ctlg | rs1060499718 |
| Max Magnitude | 5 |
c.12310_12311delGT (p.Val4104Tyrfs)
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 as well as in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs1060499718(-;-) |
| Alt | rs1060499718(-;-) |
| Reference | Rs1060499718(GT;GT) |
| Significance | Pathogenic |
| Disease | Polycystic kidney disease |
| Variation | info |
| Gene | PKD1 MIR1225 LOC105371049 |
| CLNDBN | Polycystic kidney disease, adult type |
| Reversed | 1 |
| HGVS | NC_000016.9:g.2140419_2140420delAC |
| CLNSRC | |
| CLNACC | RCV000449570.1, |
