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.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1 212858454 start lost T/C snv 3.7E-05 0.700 1.000 6 1997 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1 212858454 start lost T/C snv 3.7E-05 0.700 1.000 6 1997 2016
Hereditary Sensory and Autonomic Neuropathies
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
6 1 212858454 start lost T/C snv 3.7E-05 0.010 1.000 1 2019 2019