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: rs1085307438
rs1085307438
1.000 2 26692898 missense variant C/A snv
CUI: C3809198
Disease: PULMONARY HYPERTENSION, PRIMARY, 4
PULMONARY HYPERTENSION, PRIMARY, 4
0.800 1.000 1 2013 2013
dbSNP: rs1275988
rs1275988
1.000 0.080 2 26691496 upstream gene variant C/T snv 0.48
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 4 2017 2018
dbSNP: rs1275988
rs1275988
1.000 0.080 2 26691496 upstream gene variant C/T snv 0.48
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 4 2017 2018
dbSNP: rs11126666
rs11126666
2 26705943 intron variant G/A snv 0.26
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 3 2015 2018
dbSNP: rs1731249
rs1731249
2 26697157 intron variant T/A snv 0.48
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 3 2018 2018
dbSNP: rs2586886
rs2586886
1.000 0.080 2 26709163 intron variant C/G;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 3 2016 2019
dbSNP: rs1275988
rs1275988
1.000 0.080 2 26691496 upstream gene variant C/T snv 0.48
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.700 1.000 2 2015 2018
dbSNP: rs35021474
rs35021474
2 26693976 intron variant C/G snv 0.48
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 2 2018 2018
dbSNP: rs35021474
rs35021474
2 26693976 intron variant C/G snv 0.48
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.700 1.000 2 2018 2018
dbSNP: rs12476527
rs12476527
1.000 0.080 2 26692756 5 prime UTR variant G/C;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12476527
rs12476527
1.000 0.080 2 26692756 5 prime UTR variant G/C;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs12476527
rs12476527
1.000 0.080 2 26692756 5 prime UTR variant G/C;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1275923
rs1275923
2 26709928 intron variant C/T snv 0.48
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs1275923
rs1275923
2 26709928 intron variant C/T snv 0.48
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1275978
rs1275978
2 26700227 intron variant C/T snv 0.48
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.700 1.000 1 2018 2018
dbSNP: rs1275980
rs1275980
2 26694101 intron variant C/T snv 0.48
CUI: C0202194
Disease: Potassium measurement
Potassium measurement
0.700 1.000 1 2018 2018
dbSNP: rs1275982
rs1275982
2 26696221 intron variant C/T snv 0.48
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2018 2018
dbSNP: rs1275982
rs1275982
2 26696221 intron variant C/T snv 0.48
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs1275982
rs1275982
2 26696221 intron variant C/T snv 0.48
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.700 1.000 1 2018 2018
dbSNP: rs1275988
rs1275988
1.000 0.080 2 26691496 upstream gene variant C/T snv 0.48
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1275988
rs1275988
1.000 0.080 2 26691496 upstream gene variant C/T snv 0.48
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1731243
rs1731243
2 26707543 intron variant C/T snv 0.48
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2018 2018
dbSNP: rs1731243
rs1731243
2 26707543 intron variant C/T snv 0.48
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1731243
rs1731243
2 26707543 intron variant C/T snv 0.48
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.700 1.000 1 2018 2018
dbSNP: rs1731243
rs1731243
2 26707543 intron variant C/T snv 0.48
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018