rs104894474, RDH12;GPHN

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 13
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
20 0.882 0.080 14 67726086 stop gained G/T snv 0.700 1.000 3 2004 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 14 67726086 stop gained G/T snv 0.700 1.000 1 2019 2019
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.080 14 67726086 stop gained G/T snv 0.010 1.000 1 2007 2007