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 0.925 20 63445322 missense variant G/A;C snv 0.700 1.000 29 1980 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 20 63445322 missense variant G/A;C snv 0.700 1.000 29 1980 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.925 20 63445322 missense variant G/A;C snv 0.700 0
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.925 20 63445322 missense variant G/A;C snv 0.700 0