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.
Wolfram-Like Syndrome, Autosomal Dominant
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
5 0.807 0.360 4 6302385 missense variant G/A snv 0.800 1.000 3 2006 2011
DEAFNESS, AUTOSOMAL DOMINANT 6
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
11 0.807 0.360 4 6302385 missense variant G/A snv 0.700 1.000 1 2011 2011
Dominant hereditary optic atrophy
CUI: C4551508
Disease: Dominant hereditary optic atrophy
14 0.807 0.360 4 6302385 missense variant G/A snv 0.010 1.000 1 2006 2006
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.807 0.360 4 6302385 missense variant G/A snv 0.010 1.000 1 2006 2006
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.807 0.360 4 6302385 missense variant G/A snv 0.010 1.000 1 2008 2008
Optic Atrophy 1
CUI: C0338508
Disease: Optic Atrophy 1
45 0.807 0.360 4 6302385 missense variant G/A snv 0.010 1.000 1 2006 2006
Wolfram-like syndrome
CUI: C4518338
Disease: Wolfram-like syndrome
2 0.807 0.360 4 6302385 missense variant G/A snv 0.010 1.000 1 2018 2018