GNAL, G protein subunit alpha L, 2774

N. diseases: 41; N. variants: 14
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: rs1252185897
rs1252185897
1.000 18 11868596 stop gained C/T snv 4.0E-06
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014