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: rs3774427
rs3774427 		3 53531601 intron variant C/G snv 0.11
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3774442
rs3774442 		3 53553032 intron variant A/C;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3774447
rs3774447 		3 53561685 intron variant T/C snv 2.9E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3774447
rs3774447 		3 53561685 intron variant T/C snv 2.9E-02
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3774573
rs3774573 		3 53765933 non coding transcript exon variant T/C snv 0.27
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs3821843
rs3821843 		3 53523985 intron variant G/A snv 0.72
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs3821843
rs3821843 		3 53523985 intron variant G/A snv 0.72
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs386834263
rs386834263 		3 53673113 missense variant G/C snv
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs386834264
rs386834264 		0.925 0.040 3 53673804 missense variant G/A snv
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.700 1.000 1 2013 2013
dbSNP: rs386834264
rs386834264 		0.925 0.040 3 53673804 missense variant G/A snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs552345
rs552345 		3 53419236 intron variant C/T snv 3.2E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs6445597
rs6445597 		3 53700504 intron variant G/A snv 0.36
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs719260
rs719260 		3 53755145 intron variant T/C snv 0.20
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs7340705
rs7340705 		3 53700416 intron variant T/C snv 0.42
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs793202
rs793202 		3 53477621 intron variant G/A snv 0.48
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs893363
rs893363 		1.000 0.040 3 53813035 3 prime UTR variant G/A snv 0.54
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs9810888
rs9810888 		3 53601568 intron variant T/G snv 0.51
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs9814480
rs9814480 		3 53556438 intron variant C/T snv 0.14
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs9814480
rs9814480 		3 53556438 intron variant C/T snv 0.14
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs9814480
rs9814480 		3 53556438 intron variant C/T snv 0.14
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9821489
rs9821489 		3 53541701 intron variant G/A snv 0.16
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs9841978
rs9841978 		1.000 0.080 3 53696708 intron variant G/A snv 0.36
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs398122827
rs398122827 		1.000 0.080 3 53673802 inframe insertion -/GGG delins
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs41276445
rs41276445 		1.000 3 53730470 missense variant C/A;G;T snv 2.9E-04; 1.2E-05
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.800 1.000 1 2013 2013
dbSNP: rs759274321
rs759274321 		1.000 0.080 3 53673723 missense variant C/T snv 1.6E-05 3.5E-05
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.710 1.000 1 2019 2019