rs61750200, ABCA4

N. diseases: 8
Disease: Autosomal recessive retinitis pigmentosa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autosomal recessive retinitis pigmentosa
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
0.010 GeneticVariation BEFREE Our results revealed the presence of three novel mutations: c.160T>G (p.C54G), c.2486C>T (p.T829M), and c.973-6C>A; two mutations previously reported, c.634C>T (p.R212C) and c.4253+4C>T, and several polymorphic changes in the ABCA4 gene among Turkish patients affected with Stargardt and arRP. 15108289 2004