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: rs1414109649
rs1414109649 		1.000 0.080 5 40765164 missense variant A/G snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs370544157
rs370544157 		0.882 0.160 5 40764612 missense variant C/T snv 8.0E-06
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs370544157
rs370544157 		0.882 0.160 5 40764612 missense variant C/T snv 8.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2009 2009
dbSNP: rs370544157
rs370544157 		0.882 0.160 5 40764612 missense variant C/T snv 8.0E-06
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs570874680
rs570874680 		5 40764955 missense variant G/A snv 7.2E-05 7.0E-06
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs928784854
rs928784854 		1.000 0.080 5 40798143 missense variant T/C snv 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs6882903
rs6882903 		0.925 0.080 5 40765760 intron variant A/C snv 2.7E-03
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs6882903
rs6882903 		0.925 0.080 5 40765760 intron variant A/C snv 2.7E-03
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs3805490
rs3805490 		0.925 0.080 5 40792051 intron variant T/A snv 0.21
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3805490
rs3805490 		0.925 0.080 5 40792051 intron variant T/A snv 0.21
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3805489
rs3805489 		0.882 0.040 5 40793242 intron variant T/G snv 0.22
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3805489
rs3805489 		0.882 0.040 5 40793242 intron variant T/G snv 0.22
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3805489
rs3805489 		0.882 0.040 5 40793242 intron variant T/G snv 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1002424
rs1002424 		1.000 0.040 5 40767295 intron variant A/G snv 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs10074991
rs10074991 		0.851 0.120 5 40790449 intron variant G/A snv 0.31
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.720 1.000 3 2014 2018
dbSNP: rs10074991
rs10074991 		0.851 0.120 5 40790449 intron variant G/A snv 0.31
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs10074991
rs10074991 		0.851 0.120 5 40790449 intron variant G/A snv 0.31
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs10074991
rs10074991 		0.851 0.120 5 40790449 intron variant G/A snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs10074991
rs10074991 		0.851 0.120 5 40790449 intron variant G/A snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs10074991
rs10074991 		0.851 0.120 5 40790449 intron variant G/A snv 0.31
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs10074991
rs10074991 		0.851 0.120 5 40790449 intron variant G/A snv 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs13361707
rs13361707 		0.882 0.120 5 40791782 intron variant C/T snv 0.31
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.780 1.000 11 2011 2018
dbSNP: rs13361707
rs13361707 		0.882 0.120 5 40791782 intron variant C/T snv 0.31
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.780 1.000 9 2011 2018
dbSNP: rs13361707
rs13361707 		0.882 0.120 5 40791782 intron variant C/T snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2016 2018
dbSNP: rs13361707
rs13361707 		0.882 0.120 5 40791782 intron variant C/T snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2016 2018