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: rs3130981
rs3130981 		0.925 0.080 6 31116036 missense variant T/C;G snv 0.76
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3130981
rs3130981 		0.925 0.080 6 31116036 missense variant T/C;G snv 0.76
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3130981
rs3130981 		0.925 0.080 6 31116036 missense variant T/C;G snv 0.76
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 2 2009 2010
dbSNP: rs3130981
rs3130981 		0.925 0.080 6 31116036 missense variant T/C;G snv 0.76
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs3130981
rs3130981 		0.925 0.080 6 31116036 missense variant T/C;G snv 0.76
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3130982
rs3130982 		1.000 6 31116298 synonymous variant G/C;T snv 0.56; 1.3E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs3130982
rs3130982 		1.000 6 31116298 synonymous variant G/C;T snv 0.56; 1.3E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs3130982
rs3130982 		1.000 6 31116298 synonymous variant G/C;T snv 0.56; 1.3E-02
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: rs3130982
rs3130982 		1.000 6 31116298 synonymous variant G/C;T snv 0.56; 1.3E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
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: rs1382119307
rs1382119307 		6 31116450 missense variant C/G snv 7.0E-06
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs1042126
rs1042126 		1.000 6 31116511 synonymous variant T/C snv 0.57 0.58
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs1042126
rs1042126 		1.000 6 31116511 synonymous variant T/C snv 0.57 0.58
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs1042126
rs1042126 		1.000 6 31116511 synonymous variant T/C snv 0.57 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: rs1042126
rs1042126 		1.000 6 31116511 synonymous variant T/C snv 0.57 0.58
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs1062470
rs1062470 		0.925 0.040 6 31116658 synonymous variant G/A snv 0.37 0.41
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1062470
rs1062470 		0.925 0.040 6 31116658 synonymous variant G/A snv 0.37 0.41
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs1062470
rs1062470 		0.925 0.040 6 31116658 synonymous variant G/A snv 0.37 0.41
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2009 2009
dbSNP: rs1062470
rs1062470 		0.925 0.040 6 31116658 synonymous variant G/A snv 0.37 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: rs1062470
rs1062470 		0.925 0.040 6 31116658 synonymous variant G/A snv 0.37 0.41
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs672601343
rs672601343 		1.000 0.080 6 31116869 frameshift variant C/- delins
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: rs121917819
rs121917819 		1.000 0.040 6 31116972 stop gained G/A;C snv
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs3130983
rs3130983 		0.925 0.120 6 31117015 synonymous variant C/T snv 0.57 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: rs3130983
rs3130983 		0.925 0.120 6 31117015 synonymous variant C/T snv 0.57 0.58
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010