rs113994205(A;G)
From SNPedia
Carrier of a cystinosis mutation |
Is a | genotype |
of | rs113994205 |
Gene | CTNS, LOC105371492 |
Chromosome | 17 |
Position | 3,655,305 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a cystinosis mutation |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second CTNS gene mutation