rs368263958(G;T)
From SNPedia
| Carrier of a rare variant in the PKHD1 gene, of uncertain significance |
| Is a | genotype |
| of | rs368263958 |
| Gene | PKHD1 |
| Chromosome | 6 |
| Position | 51,909,466 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 7 | Autosomal recessive polycystic kidney disease |
| (A;G) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a rare variant in the PKHD1 gene, of uncertain significance |
c.6499C>A (p.Gln2167Lys); note that this is a very rare variant, currently designated as "of uncertain significance" in ClinVar
