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: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs35599367
rs35599367 		1.000 0.080 7 99768693 intron variant G/A snv 3.2E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs368005287
rs368005287 		0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2004 2004
dbSNP: rs368005287
rs368005287 		0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs368005287
rs368005287 		0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs372351170
rs372351170 		1.000 0.080 7 99767248 synonymous variant T/C snv 1.8E-05 3.5E-05
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3735451
rs3735451 		7 99758352 intron variant T/C snv 0.31
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs4646437
rs4646437 		0.827 0.200 7 99767460 intron variant G/A snv 0.30
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs4646437
rs4646437 		0.827 0.200 7 99767460 intron variant G/A snv 0.30
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4646437
rs4646437 		0.827 0.200 7 99767460 intron variant G/A snv 0.30
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs4646437
rs4646437 		0.827 0.200 7 99767460 intron variant G/A snv 0.30
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4646437
rs4646437 		0.827 0.200 7 99767460 intron variant G/A snv 0.30
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		0.010 1.000 1 2017 2017
dbSNP: rs4646437
rs4646437 		0.827 0.200 7 99767460 intron variant G/A snv 0.30
CUI: C4721698
Disease: Metastatic Renal Cell Carcinoma
Metastatic Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4646437
rs4646437 		0.827 0.200 7 99767460 intron variant G/A snv 0.30
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs4646440
rs4646440 		7 99763247 intron variant G/A snv 5.1E-02
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs4646440
rs4646440 		7 99763247 intron variant G/A snv 5.1E-02
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs4986910
rs4986910 		0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009