Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865404
rs281865404
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 GeneticVariation BEFREE In the STGD1 patient we found the c.5327C>T (p.P1776L) missense mutation and a novel c.868C>T (p.R290W) missense mutation. 17893657

2007