Source: CURATED

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: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.800 0.900 1 1997 2018
dbSNP: rs74315283
rs74315283
AGT
1.000 0.120 1 230705933 missense variant C/A;T snv 8.0E-06; 2.4E-05
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.800 1.000 1 2005 2005
dbSNP: rs2004776
rs2004776
AGT
1 230712956 intron variant C/G;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 4 2017 2018
dbSNP: rs2004776
rs2004776
AGT
1 230712956 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2017 2018
dbSNP: rs11568026
rs11568026
AGT
1 230711777 intron variant A/G snv 3.7E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568026
rs11568026
AGT
1 230711777 intron variant A/G snv 3.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2004776
rs2004776
AGT
1 230712956 intron variant C/G;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2018 2018
dbSNP: rs2004776
rs2004776
AGT
1 230712956 intron variant C/G;T snv
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs2148582
rs2148582
AGT
1 230714053 intron variant A/G snv 0.58
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs2478539
rs2478539
AGT
1 230709026 intron variant G/T snv 0.57
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs2478543
rs2478543
AGT
1 230708564 intron variant T/C snv 0.58
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs2493134
rs2493134
AGT
1 230713613 intron variant T/C snv 0.57
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs2493134
rs2493134
AGT
1 230713613 intron variant T/C snv 0.57
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2016 2016
dbSNP: rs2493134
rs2493134
AGT
1 230713613 intron variant T/C snv 0.57
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs3789671
rs3789671
AGT
1 230708054 intron variant G/A;T snv
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs3789678
rs3789678
AGT
1.000 0.040 1 230713736 intron variant C/T snv 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5051
rs5051
AGT
0.882 0.160 1 230714126 intron variant C/A;G;T snv
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs6687360
rs6687360
AGT
1 230709246 intron variant C/T snv 0.45
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs121912702
rs121912702
AGT
1.000 0.120 1 230710247 stop gained G/A snv
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.700 0
dbSNP: rs387906578
rs387906578
AGT
1.000 0.120 1 230703309 frameshift variant A/-;AA delins
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.700 0