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: rs7756521
rs7756521 		1.000 6 30880476 intron variant T/C snv 0.25
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		Infections; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs3131034
rs3131034 		0.925 0.080 6 30886019 intron variant G/A snv 0.75
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs7756521
rs7756521 		1.000 6 30880476 intron variant T/C snv 0.25
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs9295930
rs9295930 		1.000 6 30882045 intron variant G/A snv 0.17
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs9468843
rs9468843 		1.000 6 30900181 downstream gene variant T/C snv 0.17
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs1029044314
rs1029044314 		0.851 0.040 6 30898095 missense variant G/A snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs766265850
rs766265850 		0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3131034
rs3131034 		0.925 0.080 6 30886019 intron variant G/A snv 0.75
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs7756521
rs7756521 		1.000 6 30880476 intron variant T/C snv 0.25
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs9295930
rs9295930 		1.000 6 30882045 intron variant G/A snv 0.17
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs9468843
rs9468843 		1.000 6 30900181 downstream gene variant T/C snv 0.17
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs921859872
rs921859872 		1.000 0.080 6 30895461 missense variant C/A;T snv 4.1E-06; 1.6E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs149997688
rs149997688 		1.000 0.080 6 30893833 intron variant G/A snv
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1264320
rs1264320 		0.882 0.400 6 30893223 intron variant C/T snv 0.32 0.28
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1264320
rs1264320 		0.882 0.400 6 30893223 intron variant C/T snv 0.32 0.28
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1264320
rs1264320 		0.882 0.400 6 30893223 intron variant C/T snv 0.32 0.28
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs116551911
rs116551911 		1.000 0.080 6 30896502 intron variant C/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs116552815
rs116552815 		1.000 0.040 6 30888130 intron variant G/A snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1029044314
rs1029044314 		0.851 0.040 6 30898095 missense variant G/A snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs766265850
rs766265850 		0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs140296720
rs140296720 		0.925 0.080 6 30896816 missense variant G/A snv 4.3E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1029044314
rs1029044314 		0.851 0.040 6 30898095 missense variant G/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs766265850
rs766265850 		0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1029044314
rs1029044314 		0.851 0.040 6 30898095 missense variant G/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs766265850
rs766265850 		0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2017 2017