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: 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: 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: 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: rs593226
rs593226
ATXN2
12 111556082 intron variant A/G snv 0.43
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs607316
rs607316
ATXN2
12 111531644 intron variant C/T snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs616513
rs616513
ATXN2
12 111565579 intron variant G/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs616559
rs616559
ATXN2
12 111565546 intron variant T/C snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs616668
rs616668
ATXN2
12 111536476 intron variant T/A;C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs625093
rs625093
ATXN2
12 111550628 intron variant A/G snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs628825
rs628825
ATXN2
12 111514046 intron variant C/T snv 0.37
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs630512
rs630512
ATXN2
12 111514363 intron variant C/T snv 0.37
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs638791
rs638791
ATXN2
12 111551432 intron variant A/G snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs648997
rs648997
ATXN2
12 111538972 intron variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6490162
rs6490162
ATXN2
12 111503316 intron variant T/C snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs657197
rs657197
ATXN2
12 111527854 intron variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs688812
rs688812
ATXN2
12 111524777 intron 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: 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