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.
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
15 0.882 0.200 15 89326947 missense variant C/A;G snv 4.8E-03; 2.0E-05 0.700 1.000 9 2003 2006
Camptocormia
CUI: C0264162
Disease: Camptocormia
2 0.882 0.200 15 89326947 missense variant C/A;G snv 4.8E-03; 2.0E-05 0.700 0
Limb-girdle muscle atrophy
CUI: C1842552
Disease: Limb-girdle muscle atrophy
1 0.882 0.200 15 89326947 missense variant C/A;G snv 4.8E-03; 2.0E-05 0.700 0