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: rs10774625
rs10774625
0.763 0.320 12 111472415 intron variant A/G snv 0.66
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs597808
rs597808
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs653178
rs653178
0.672 0.600 12 111569952 intron variant C/T snv 0.67
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017