Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518955
rs1057518955
ABCA4
1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.700 0