ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
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: rs3184504
rs3184504
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.820 1.000 4 2011 2018
dbSNP: rs653178
rs653178
0.672 0.600 12 111569952 intron variant C/T snv 0.67
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.710 1.000 2 2011 2013