RS1, retinoschisin 1, 6247

N. diseases: 43; N. variants: 67
Disease: Retinal Dystrophies ×
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: rs61752067
rs61752067 		0.925 0.040 X 18647213 missense variant G/A snv 5.5E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2016 2016