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: rs1311839715
rs1311839715
0.882 0.200 17 21703291 missense variant G/C snv 7.0E-06
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016