Source: ALL

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: rs1014064
rs1014064
ACVR2A
0.925 0.120 2 147854585 intron variant A/G snv 0.32
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs1014064
rs1014064
ACVR2A
0.925 0.120 2 147854585 intron variant A/G snv 0.32
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs10803523
rs10803523
ACVR2A
0.925 0.120 2 147858262 intron variant T/G snv 0.33
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs10803523
rs10803523
ACVR2A
0.925 0.120 2 147858262 intron variant T/G snv 0.33
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs1128919
rs1128919
ACVR2A
0.925 0.120 2 147899548 synonymous variant G/A snv 0.35 0.32
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs1128919
rs1128919
ACVR2A
0.925 0.120 2 147899548 synonymous variant G/A snv 0.35 0.32
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs12987286
rs12987286
ACVR2A
2 147905999 intron variant G/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs13019809
rs13019809
ACVR2A
0.925 0.120 2 147892904 intron variant G/A snv 0.33
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs13019809
rs13019809
ACVR2A
0.925 0.120 2 147892904 intron variant G/A snv 0.33
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs13026650
rs13026650
ACVR2A
0.925 0.120 2 147916632 intron variant G/A;T snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs13026650
rs13026650
ACVR2A
0.925 0.120 2 147916632 intron variant G/A;T snv
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs13033696
rs13033696
ACVR2A
0.925 0.120 2 147887758 intron variant A/G;T snv
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs13033696
rs13033696
ACVR2A
0.925 0.120 2 147887758 intron variant A/G;T snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs17741978
rs17741978
ACVR2A
2 147859811 intron variant C/G snv 0.14
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs2113793
rs2113793
ACVR2A
0.925 0.120 2 147865884 intron variant T/G snv 0.32
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs2113793
rs2113793
ACVR2A
0.925 0.120 2 147865884 intron variant T/G snv 0.32
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs2161983
rs2161983
ACVR2A
0.925 0.120 2 147891817 intron variant G/A snv 0.33
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs2161983
rs2161983
ACVR2A
0.925 0.120 2 147891817 intron variant G/A snv 0.33
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs3764955
rs3764955
ACVR2A
0.925 0.120 2 147917228 intron variant G/C snv 0.26
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs3764955
rs3764955
ACVR2A
0.925 0.120 2 147917228 intron variant G/C snv 0.26
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs3820716
rs3820716
ACVR2A
2 147922691 intron variant G/A snv 0.47
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs3820716
rs3820716
ACVR2A
2 147922691 intron variant G/A snv 0.47
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs6711673
rs6711673
ACVR2A
0.925 0.120 2 147885690 intron variant A/C snv 0.32
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs6711673
rs6711673
ACVR2A
0.925 0.120 2 147885690 intron variant A/C snv 0.32
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs929939
rs929939
ACVR2A
0.925 0.120 2 147869959 intron variant C/A snv 0.33
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013