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: rs1553387422
rs1553387422 		1.000 2 26727748 missense variant T/C snv
CUI: C3809198
Disease: PULMONARY HYPERTENSION, PRIMARY, 4
PULMONARY HYPERTENSION, PRIMARY, 4 		0.700 0
dbSNP: rs398123039
rs398123039 		0.925 0.040 2 26727991 missense variant G/A snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs398123039
rs398123039 		0.925 0.040 2 26727991 missense variant G/A snv
CUI: C3809198
Disease: PULMONARY HYPERTENSION, PRIMARY, 4
PULMONARY HYPERTENSION, PRIMARY, 4 		0.700 0
dbSNP: rs398123040
rs398123040 		1.000 2 26727672 missense variant G/A snv
CUI: C3809198
Disease: PULMONARY HYPERTENSION, PRIMARY, 4
PULMONARY HYPERTENSION, PRIMARY, 4 		0.700 0
dbSNP: rs398123041
rs398123041 		1.000 2 26728044 missense variant G/C snv
CUI: C3809198
Disease: PULMONARY HYPERTENSION, PRIMARY, 4
PULMONARY HYPERTENSION, PRIMARY, 4 		0.700 0
dbSNP: rs398123042
rs398123042 		1.000 2 26727927 missense variant G/A snv 1.4E-05
CUI: C3809198
Disease: PULMONARY HYPERTENSION, PRIMARY, 4
PULMONARY HYPERTENSION, PRIMARY, 4 		0.700 0
dbSNP: rs398123043
rs398123043 		1.000 2 26727958 missense variant A/G snv
CUI: C3809198
Disease: PULMONARY HYPERTENSION, PRIMARY, 4
PULMONARY HYPERTENSION, PRIMARY, 4 		0.700 0
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: 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
dbSNP: rs1731249
rs1731249 		2 26697157 intron variant T/A snv 0.48
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018