rs28940315, GPHN;RDH12

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 13
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
20 0.925 0.080 14 67725206 missense variant C/A snv 6.4E-05 3.5E-05 0.800 1.000 5 2004 2015
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 14 67725206 missense variant C/A snv 6.4E-05 3.5E-05 0.700 0