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rs281865192(A;G)

From SNPedia
carrier of one Leber Congenital Amaurosis allele
Is agenotype
ofrs281865192
GeneCEP290
Chromosome12
Position88,101,183
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of one Leber Congenital Amaurosis allele
(G;G) 6 Leber Congenital Amaurosis (blindness)

see discussion at rs281865192