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: 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
dbSNP: rs1553676901
rs1553676901 		3 53776046 splice donor variant G/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 9 2000 2017
dbSNP: rs2358740
rs2358740 		1.000 0.040 3 53421542 intron variant G/T snv 0.25
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 3 2015 2019
dbSNP: rs3821843
rs3821843 		3 53523985 intron variant G/A snv 0.72
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 3 2017 2019
dbSNP: rs13076366
rs13076366 		3 53713347 intron variant C/A snv 0.22
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2015 2018
dbSNP: rs3774427
rs3774427 		3 53531601 intron variant C/G snv 0.11
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2018 2018
dbSNP: rs9810888
rs9810888 		3 53601568 intron variant T/G snv 0.51
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2015 2018
dbSNP: rs9810888
rs9810888 		3 53601568 intron variant T/G snv 0.51
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2015 2018
dbSNP: rs9814480
rs9814480 		3 53556438 intron variant C/T snv 0.14
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2018
dbSNP: rs10452033
rs10452033 		3 53407349 intron variant G/A snv 0.25
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2014 2014
dbSNP: rs12715461
rs12715461 		3 53544856 intron variant A/C;G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs13080668
rs13080668 		3 53409327 intron variant T/A;C snv 0.25
CUI: C0018810
Disease: heart rate
heart rate 		0.700 1.000 1 2013 2013
dbSNP: rs14165
rs14165 		1.000 3 53813381 3 prime UTR variant A/G;T snv
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs14165
rs14165 		1.000 3 53813381 3 prime UTR variant A/G;T snv
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		0.700 1.000 1 2013 2013
dbSNP: rs17237537
rs17237537 		3 53628309 intron variant C/G snv 0.14
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs185334926
rs185334926 		1.000 0.080 3 53733862 intron variant C/T snv
CUI: C0021603
Disease: Sleep Initiation and Maintenance Disorders
Sleep Initiation and Maintenance Disorders 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs2306866
rs2306866 		3 53732185 intron variant A/T snv 0.59
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2358740
rs2358740 		1.000 0.040 3 53421542 intron variant G/T snv 0.25
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2016 2016
dbSNP: rs2633725
rs2633725 		3 53717715 intron variant T/A;C snv
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs3774427
rs3774427 		3 53531601 intron variant C/G snv 0.11
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3774427
rs3774427 		3 53531601 intron variant C/G snv 0.11
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
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