SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Disease: Abnormal involuntary movement ×
Source: ALL
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: rs145522851
rs145522851 		0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0