rs62637014, AIPL1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Leber Congenital Amaurosis 4
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
5 0.925 0.040 17 6425781 stop gained C/T snv 3.3E-04 3.8E-04 0.700 1.000 7 2000 2015
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.925 0.040 17 6425781 stop gained C/T snv 3.3E-04 3.8E-04 0.700 1.000 2 2000 2019