Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894580
rs104894580
0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002