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: rs35599367
rs35599367 		1.000 0.080 7 99768693 intron variant G/A snv 3.2E-02
CUI: C0519826
Disease: ASSAY FOR TACROLIMUS
ASSAY FOR TACROLIMUS 		0.700 1.000 2 2018 2019
dbSNP: rs28908768
rs28908768 		1.000 7 99771177 intron variant -/CT delins
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.700 1.000 1 2019 2019
dbSNP: rs28908768
rs28908768 		1.000 7 99771177 intron variant -/CT delins
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2019 2019
dbSNP: rs28908768
rs28908768 		1.000 7 99771177 intron variant -/CT delins
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2019 2019
dbSNP: rs28908768
rs28908768 		1.000 7 99771177 intron variant -/CT delins
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs28908768
rs28908768 		1.000 7 99771177 intron variant -/CT delins
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs34642455
rs34642455 		7 99777087 intron variant T/C snv 8.8E-03
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2242480
rs2242480 		0.882 0.120 7 99763843 intron variant C/T snv 0.22 0.32
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2019
dbSNP: rs2242480
rs2242480 		0.882 0.120 7 99763843 intron variant C/T snv 0.22 0.32
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2019
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2013 2014
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2013 2014
dbSNP: rs4646437
rs4646437 		0.827 0.200 7 99767460 intron variant G/A snv 0.30
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs12721627
rs12721627 		7 99768470 missense variant G/C snv 7.6E-05 5.6E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs12721627
rs12721627 		7 99768470 missense variant G/C snv 7.6E-05 5.6E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs138105638
rs138105638 		7 99766440 stop gained G/A;T snv 6.4E-05 7.7E-05
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs138105638
rs138105638 		7 99766440 stop gained G/A;T snv 6.4E-05 7.7E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs138105638
rs138105638 		7 99766440 stop gained G/A;T snv 6.4E-05 7.7E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs140422742
rs140422742 		0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2004 2004
dbSNP: rs140422742
rs140422742 		0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05
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: rs140422742
rs140422742 		0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05
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: rs2242480
rs2242480 		0.882 0.120 7 99763843 intron variant C/T snv 0.22 0.32
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2242480
rs2242480 		0.882 0.120 7 99763843 intron variant C/T snv 0.22 0.32
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2242480
rs2242480 		0.882 0.120 7 99763843 intron variant C/T snv 0.22 0.32
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2246709
rs2246709 		1.000 0.040 7 99768096 intron variant A/G snv 0.31
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2010 2010