Source: GWASDB

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.700 1.000 3 2009 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 2 2009 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.810 1.000 2 2013 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 2 2011 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.820 1.000 2 2009 2018
dbSNP: rs653178
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.810 1.000 2 2008 2011
dbSNP: rs653178
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 2 2011 2011
dbSNP: rs1029388
rs1029388
ATXN2
12 111489097 intron variant T/C snv 0.38
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10774625
rs10774625
ATXN2
0.763 0.320 12 111472415 intron variant A/G snv 0.66
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs10774625
rs10774625
ATXN2
0.763 0.320 12 111472415 intron variant A/G snv 0.66
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs10774625
rs10774625
ATXN2
0.763 0.320 12 111472415 intron variant A/G snv 0.66
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10774625
rs10774625
ATXN2
0.763 0.320 12 111472415 intron variant A/G snv 0.66
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs10849949
rs10849949
ATXN2
12 111455733 3 prime UTR variant A/G snv 0.38
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12369009
rs12369009
ATXN2
12 111581995 intron variant G/T snv 0.63
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2073950
rs2073950
ATXN2
12 111456268 intron variant C/T snv 0.21 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2238154
rs2238154
ATXN2 ; SH2B3
0.882 0.080 12 111444681 intron variant C/A;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2239195
rs2239195
ATXN2 ; SH2B3
12 111443505 3 prime UTR variant G/T snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2301621
rs2301621
ATXN2
12 111457468 non coding transcript exon variant C/T snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2301622
rs2301622
ATXN2
12 111457399 non coding transcript exon variant C/G;T snv 0.34
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2339816
rs2339816
ATXN2
12 111474384 intron variant T/C snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.800 1.000 1 2009 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.700 1.000 1 2011 2011