rs114342808, CRB1

N. diseases: 3
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 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
42 0.882 0.080 1 197421404 stop gained C/T snv 3.2E-05 1.4E-05 0.700 1.000 3 2008 2017
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
38 0.882 0.080 1 197421404 stop gained C/T snv 3.2E-05 1.4E-05 0.700 1.000 3 2008 2017
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.080 1 197421404 stop gained C/T snv 3.2E-05 1.4E-05 0.700 0