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: rs606231274
rs606231274 		1.000 0.080 6 31117447 frameshift variant -/CAGG delins 3.1E-05 7.0E-06
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1042127
rs1042127 		0.925 0.120 6 31116393 missense variant A/C snv 0.21 0.17
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia 		0.010 1.000 1 2019 2019
dbSNP: rs1042127
rs1042127 		0.925 0.120 6 31116393 missense variant A/C snv 0.21 0.17
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs3130573
rs3130573 		1.000 0.040 6 31138491 non coding transcript exon variant A/C;G snv 8.1E-06; 0.33
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.800 1.000 1 2011 2011
dbSNP: rs3778639
rs3778639 		1.000 6 31125999 intron variant A/C;G;T snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs3778639
rs3778639 		1.000 6 31125999 intron variant A/C;G;T snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs3778639
rs3778639 		1.000 6 31125999 intron variant A/C;G;T snv
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2010 2010
dbSNP: rs3778639
rs3778639 		1.000 6 31125999 intron variant A/C;G;T snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs1042147
rs1042147 		1.000 6 31115379 3 prime UTR variant A/G snv 0.58
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2010 2010
dbSNP: rs1042147
rs1042147 		1.000 6 31115379 3 prime UTR variant A/G snv 0.58
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs1042147
rs1042147 		1.000 6 31115379 3 prime UTR variant A/G snv 0.58
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs1042147
rs1042147 		1.000 6 31115379 3 prime UTR variant A/G snv 0.58
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs1265099
rs1265099 		0.925 0.040 6 31137636 3 prime UTR variant A/G snv 0.41
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1265099
rs1265099 		0.925 0.040 6 31137636 3 prime UTR variant A/G snv 0.41
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs139332374
rs139332374 		6 31134528 intron variant A/G snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3094204
rs3094204 		1.000 6 31124215 intron variant A/G snv 0.61
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2009 2009
dbSNP: rs3094204
rs3094204 		1.000 6 31124215 intron variant A/G snv 0.61
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs3094204
rs3094204 		1.000 6 31124215 intron variant A/G snv 0.61
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs3094204
rs3094204 		1.000 6 31124215 intron variant A/G snv 0.61
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2009 2009
dbSNP: rs3094205
rs3094205 		1.000 6 31124085 intron variant A/G snv 0.41
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs3094205
rs3094205 		1.000 6 31124085 intron variant A/G snv 0.41
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs3094205
rs3094205 		1.000 6 31124085 intron variant A/G snv 0.41
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2009 2009
dbSNP: rs3094205
rs3094205 		1.000 6 31124085 intron variant A/G snv 0.41
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2009 2009
dbSNP: rs3094222
rs3094222 		1.000 0.080 6 31113657 upstream gene variant A/G snv 9.7E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3132545
rs3132545 		1.000 6 31121348 intron variant A/G snv 0.76
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010