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 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06 0.700 1.000 2 2005 2014
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06 0.700 0