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: rs12170597
rs12170597 		1.000 22 46534853 missense variant G/A snv 1.2E-03 5.2E-03
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs150109621
rs150109621 		1.000 0.040 22 46429532 intron variant C/T snv 5.9E-03
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		0.700 1.000 1 2019 2019
dbSNP: rs150109621
rs150109621 		1.000 0.040 22 46429532 intron variant C/T snv 5.9E-03
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs150109621
rs150109621 		1.000 0.040 22 46429532 intron variant C/T snv 5.9E-03
CUI: C0018810
Disease: heart rate
heart rate 		0.700 1.000 1 2019 2019
dbSNP: rs150381023
rs150381023 		1.000 0.040 22 46423108 intron variant T/C snv 5.8E-03
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs150381023
rs150381023 		1.000 0.040 22 46423108 intron variant T/C snv 5.8E-03
CUI: C0018810
Disease: heart rate
heart rate 		0.700 1.000 1 2019 2019
dbSNP: rs150381023
rs150381023 		1.000 0.040 22 46423108 intron variant T/C snv 5.8E-03
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		0.700 1.000 1 2019 2019
dbSNP: rs199688538
rs199688538 		1.000 22 46378661 missense variant C/T snv 4.8E-04 4.3E-04
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs535263906
rs535263906 		1.000 0.040 22 46422493 intron variant G/A snv 8.6E-03
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		0.700 1.000 1 2019 2019
dbSNP: rs535263906
rs535263906 		1.000 0.040 22 46422493 intron variant G/A snv 8.6E-03
CUI: C0018810
Disease: heart rate
heart rate 		0.700 1.000 1 2019 2019
dbSNP: rs535263906
rs535263906 		1.000 0.040 22 46422493 intron variant G/A snv 8.6E-03
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6008813
rs6008813 		1.000 0.080 22 46416688 intron variant G/A snv 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs61741871
rs61741871 		1.000 22 46364084 missense variant G/C snv 7.9E-03 3.2E-02
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs71313049
rs71313049 		1.000 0.080 22 46458337 intron variant T/C snv 8.0E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1569124017
rs1569124017 		1.000 0.040 22 46386401 splice donor variant C/T snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569133268
rs1569133268 		1.000 0.040 22 46396747 splice acceptor variant C/G snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569141899
rs1569141899 		1.000 0.040 22 46408994 splice donor variant A/T snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569226110
rs1569226110 		1.000 0.040 22 46535129 frameshift variant T/- delins
CUI: C1704423
Disease: Milroy Disease
Milroy Disease 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569227576
rs1569227576 		1.000 0.040 22 46536303 stop gained C/A snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs6008777
rs6008777 		1.000 22 46364140 missense variant G/A snv 5.9E-03 2.6E-02
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs786201015
rs786201015 		1.000 22 46409760 frameshift variant -/CA delins 1.2E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs786201016
rs786201016 		1.000 22 46396724 frameshift variant CA/- delins
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs4044210
rs4044210 		0.925 0.080 22 46390418 missense variant T/A;C snv 4.0E-06; 0.17
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2009 2015
dbSNP: rs6007897
rs6007897 		0.925 0.080 22 46384624 missense variant T/C snv 0.16 0.28
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2009 2015
dbSNP: rs4044210
rs4044210 		0.925 0.080 22 46390418 missense variant T/A;C snv 4.0E-06; 0.17
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011