rs1419039731, SLC45A2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.010 GeneticVariation BEFREE Three PUAs (p.P152H and p.W272X of TYR, p.A486T of SLC24A5) identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses. 26165494 2015