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: 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: 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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs4986910
rs4986910 		0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4986910
rs4986910 		0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs775220785
rs775220785 		0.925 0.080 7 99772615 missense variant C/T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2010 2010
dbSNP: rs775220785
rs775220785 		0.925 0.080 7 99772615 missense variant C/T snv 8.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs775220785
rs775220785 		0.925 0.080 7 99772615 missense variant C/T snv 8.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs775220785
rs775220785 		0.925 0.080 7 99772615 missense variant C/T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2010 2010