SPATA5, spermatogenesis associated 5, 166378

N. diseases: 75; N. variants: 26
Disease: Cortical visual impairment ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs796052243
rs796052243 		0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0