rs121918165, LCA5

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 5
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
3 0.925 0.040 6 79493636 stop gained G/A snv 1.2E-04 5.6E-05 0.700 1.000 5 2007 2015
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.925 0.040 6 79493636 stop gained G/A snv 1.2E-04 5.6E-05 0.700 0