rs61755802, PRPH2

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.
MACULAR DYSTROPHY, PATTERNED, 1
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
16 1.000 0.040 6 42704556 missense variant A/G snv 4.0E-06 0.800 1.000 4 1993 2016
LEBER CONGENITAL AMAUROSIS 18
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
2 1.000 0.040 6 42704556 missense variant A/G snv 4.0E-06 0.700 0