SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
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: rs104893877
rs104893877
0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs356219
rs356219
0.776 0.240 4 89716450 intron variant G/A snv 0.54
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014