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: rs2238153
rs2238153
12 111501743 intron variant G/A snv 2.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs3184504
rs3184504
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018