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: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C4016730
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, DELAYED PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, DELAYED PROGRESSION TO 		0.700 0
dbSNP: rs41469351
rs41469351 		1.000 3 46370771 intron variant C/T snv 6.1E-02
CUI: C4017844
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF 		0.700 0
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2011 2016
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.020 1.000 2 2011 2018
dbSNP: rs333
rs333 		0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2015 2018
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		Infections; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs147879075
rs147879075 		1.000 3 46373902 stop gained C/A;G;T snv 1.6E-05; 8.2E-06; 4.1E-06
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2015 2015
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C1277187
Disease: Left ventricular systolic dysfunction
Left ventricular systolic dysfunction 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0014057
Disease: Japanese Encephalitis
Japanese Encephalitis 		Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0745744
Disease: End Stage Liver Disease
End Stage Liver Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0343804
Disease: Chronic Chagas' disease
Chronic Chagas' disease 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C3887641
Disease: Recurrent hepatitis
Recurrent hepatitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1799988
rs1799988 		1.000 0.040 3 46370768 intron variant C/T snv 0.49
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1800023
rs1800023 		1.000 0.040 3 46370817 intron variant A/G snv 0.29
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1800023
rs1800023 		1.000 0.040 3 46370817 intron variant A/G snv 0.29
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017