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: rs121908561
rs121908561
0.925 0.120 17 63972197 missense variant T/C snv
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 13 1994 2016