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: rs3173615
rs3173615
0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017