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: rs757725417
rs757725417
2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2006 2006