rs587777425, DCAF8

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.
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
CUI: C4013360
Disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
1 1.000 1 160237145 missense variant G/A;T snv 0.800 1.000 1 2014 2014
Hereditary Motor and Sensory Neuropathies
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
11 1.000 1 160237145 missense variant G/A;T snv 0.010 1.000 1 2014 2014
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 1.000 1 160237145 missense variant G/A;T snv 0.010 1.000 1 2014 2014