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: rs2074238
rs2074238 		1.000 0.120 11 2463573 intron variant T/A;C snv
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 4 2009 2019
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: 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: rs111978267
rs111978267 		0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2019 2019
dbSNP: rs120074192
rs120074192 		0.763 0.120 11 2527959 missense variant A/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 < 0.001 1 2007 2007
dbSNP: rs120074196
rs120074196 		0.882 0.120 11 2572057 missense variant G/A;C snv 4.0E-06
CUI: C0741933
Disease: cardiac symptom
cardiac symptom 		0.010 1.000 1 2000 2000
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: rs12576239
rs12576239 		1.000 0.080 11 2481089 intron variant C/T snv 0.16
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 1 2009 2009
dbSNP: rs12720459
rs12720459 		0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2014 2014
dbSNP: rs143709408
rs143709408 		0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs143709408
rs143709408 		0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs147445322
rs147445322 		0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
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: rs1800172
rs1800172 		0.925 0.120 11 2847899 missense variant G/A;T snv 6.2E-03
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.010 1.000 1 2018 2018
dbSNP: rs199472678
rs199472678 		0.925 0.120 11 2445430 missense variant A/G snv 8.9E-06
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2009 2009
dbSNP: rs199472730
rs199472730 		0.882 0.120 11 2572895 missense variant C/G;T snv
CUI: C3496069
Disease: cocaine use
cocaine use 		0.010 1.000 1 2011 2011
dbSNP: rs199472742
rs199472742 		1.000 0.120 11 2572982 missense variant G/T snv
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2002 2002