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: rs144133542
rs144133542
2 55181606 missense variant C/A;T snv 2.7E-04
CUI: C0231712
Disease: Waddling gait
Waddling gait
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0