rs746681765, SLC25A46

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.
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
11 0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 0.800 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017