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: rs116840788
rs116840788
0.925 0.120 3 8745542 missense variant T/A;C snv 4.0E-06
RIPPLING MUSCLE DISEASE 2 (disorder)
Musculoskeletal Diseases; Nervous System Diseases 0.700 0