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: rs1800206
rs1800206
0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004