rs730882241, ARV1

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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
CUI: C4310762
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
2 1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05 0.800 0
Blindness
CUI: C0456909
Disease: Blindness
34 1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05 0.700 0
Nerve Degeneration
CUI: C0027746
Disease: Nerve Degeneration
17 1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05 0.700 0