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.
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
CUI: C1876182
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
1 0.882 0.080 4 653912 missense variant C/A snv 0.800 1.000 1 1994 1994
Night blindness, congenital stationary
CUI: C0339535
Disease: Night blindness, congenital stationary
52 0.882 0.080 4 653912 missense variant C/A snv 0.010 1.000 1 2007 2007
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 4 653912 missense variant C/A snv 0.010 1.000 1 2007 2007