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: rs80338792
rs80338792
0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0752355
Disease: Myotonia Fluctuans (disorder)
Myotonia Fluctuans (disorder)
Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 1995 1995