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.
Disorder of skeletal muscle
CUI: C1533847
Disease: Disorder of skeletal muscle
10 9 34990673 missense variant C/T snv 1.2E-04 1.3E-04 0.700 1.000 1 2015 2015
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 9 34990673 missense variant C/T snv 1.2E-04 1.3E-04 0.700 1.000 1 2015 2015