RS201569048 CEP290

Health Risk Chr 12:88109070
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Associated Conditions
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome
type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Other Variants in CEP290
rs137852832 rs62635288 rs2137713030 rs281865192 rs137852833 rs137852834 rs137852835 rs2137919146 rs267606719 rs386834148
Ask Dr. Hemsworth about this variant