Source: CLINVAR

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: rs62637012
rs62637012
AIPL1
0.925 0.040 17 6426684 missense variant A/G snv
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		0.800 1.000 0 2000 2007
dbSNP: rs62637012
rs62637012
AIPL1
0.925 0.040 17 6426684 missense variant A/G snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0