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: rs397637
rs397637 		1 228265627 intron variant G/T snv 0.27
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2018 2018
dbSNP: rs417237
rs417237 		1 228344494 intron variant G/T snv 0.58
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1480591236
rs1480591236 		1 228276699 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs199865640
rs199865640 		1.000 0.080 1 228317575 missense variant G/A;T snv 3.3E-04; 1.1E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs539154039
rs539154039 		1.000 0.080 1 228306922 missense variant G/A snv 3.4E-05 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs545316651
rs545316651 		1.000 0.080 1 228274676 missense variant G/A snv 8.8E-04 3.1E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs570805670
rs570805670 		1.000 0.080 1 228319181 missense variant G/A snv 2.1E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs747262678
rs747262678 		1 228279343 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs750681123
rs750681123 		1.000 0.080 1 228274007 missense variant G/A;C snv 1.7E-05; 4.1E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs950055015
rs950055015 		1.000 0.080 1 228244497 missense variant C/T snv 2.4E-05; 2.8E-05 5.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1188722
rs1188722 		0.925 0.240 1 228276575 missense variant T/C snv 0.68 0.70
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1188722
rs1188722 		0.925 0.240 1 228276575 missense variant T/C snv 0.68 0.70
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1188729
rs1188729 		1.000 0.240 1 228317967 missense variant C/A;G;T snv 4.0E-06; 0.69; 4.0E-06
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs369252
rs369252 		0.882 0.400 1 228344451 intron variant T/G snv 0.74
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs369252
rs369252 		0.882 0.400 1 228344451 intron variant T/G snv 0.74
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs369252
rs369252 		0.882 0.400 1 228344451 intron variant T/G snv 0.74
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs369758958
rs369758958 		1.000 0.120 1 228316753 missense variant C/T snv 3.3E-05 7.0E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs374400
rs374400 		0.925 0.080 1 228347383 intron variant C/T snv 0.40
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs374400
rs374400 		0.925 0.080 1 228347383 intron variant C/T snv 0.40
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs79023478
rs79023478 		1.000 0.040 1 228315865 missense variant G/A snv 8.4E-03 3.0E-02
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs79023478
rs79023478 		1.000 0.040 1 228315865 missense variant G/A snv 8.4E-03 3.0E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2017 2017