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: rs12296050
rs12296050 		11 2468112 intron variant C/T snv 0.32
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 3 2009 2019
dbSNP: rs143840904
rs143840904 		11 2792092 intron variant C/T snv 1.5E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2019 2019
dbSNP: rs16928297
rs16928297 		11 2464890 intron variant T/G snv 0.33
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 2 2009 2019
dbSNP: rs2237886
rs2237886 		11 2789501 intron variant C/T snv 9.3E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2014
dbSNP: rs7122937
rs7122937 		11 2465320 intron variant C/T snv 0.30
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 2 2014 2019
dbSNP: rs1057128
rs1057128 		11 2776007 synonymous variant G/A snv 0.21 0.16
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10798
rs10798 		11 2848935 3 prime UTR variant A/G snv 0.44 0.38
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2016 2016
dbSNP: rs10832417
rs10832417 		11 2631427 non coding transcript exon variant T/G snv 0.32
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2013 2013
dbSNP: rs10832417
rs10832417 		11 2631427 non coding transcript exon variant T/G snv 0.32
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2013 2013
dbSNP: rs10832417
rs10832417 		11 2631427 non coding transcript exon variant T/G snv 0.32
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2013 2013
dbSNP: rs12271931
rs12271931 		11 2457289 intron variant G/A snv 0.91
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2017 2017
dbSNP: rs1415058026
rs1415058026 		11 2588755 missense variant A/G snv 4.0E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs143149582
rs143149582 		11 2588801 missense variant C/A snv 4.0E-06
CUI: C0039070
Disease: Syncope
Syncope 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs151216
rs151216 		11 2659585 non coding transcript exon variant C/T snv 0.11
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs163160
rs163160 		11 2768725 intron variant A/G snv 0.15
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs163160
rs163160 		11 2768725 intron variant A/G snv 0.15
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs2075870
rs2075870 		11 2768789 intron variant G/A;T snv 5.3E-02
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
dbSNP: rs2237886
rs2237886 		11 2789501 intron variant C/T snv 9.3E-02
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs2283163
rs2283163 		11 2555665 intron variant G/A snv 0.14
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs231350
rs231350 		11 2692419 non coding transcript exon variant C/A snv 0.42
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs231841
rs231841 		11 2702374 intron variant G/T snv 0.45
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs231889
rs231889 		11 2755962 intron variant C/T snv 0.86
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs231906
rs231906 		11 2731379 intron variant G/A snv 0.59
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs233438
rs233438 		11 2773162 intron variant G/A snv 0.84
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs234864
rs234864 		11 2836067 intron variant G/A snv 0.55
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019