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: 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
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
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: 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: 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: 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: 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: 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
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