CDSN, corneodesmosin, 1041

N. diseases: 101; N. variants: 46
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: rs3094212
rs3094212 		1.000 6 31117993 non coding transcript exon variant G/A snv 0.58
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3094212
rs3094212 		1.000 6 31117993 non coding transcript exon variant G/A snv 0.58
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3094212
rs3094212 		1.000 6 31117993 non coding transcript exon variant G/A snv 0.58
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs3094212
rs3094212 		1.000 6 31117993 non coding transcript exon variant G/A snv 0.58
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: rs3095320
rs3095320 		1.000 6 31120157 intron variant G/A;C snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3095320
rs3095320 		1.000 6 31120157 intron variant G/A;C snv
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: rs3095320
rs3095320 		1.000 6 31120157 intron variant G/A;C snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs3095320
rs3095320 		1.000 6 31120157 intron variant G/A;C snv
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: 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: rs551894425
rs551894425 		1.000 6 31117993 non coding transcript exon variant G/A snv
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: rs551894425
rs551894425 		1.000 6 31117993 non coding transcript exon variant G/A snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs551894425
rs551894425 		1.000 6 31117993 non coding transcript exon variant G/A snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs551894425
rs551894425 		1.000 6 31117993 non coding transcript exon variant G/A snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs562436976
rs562436976 		1.000 6 31120157 intron variant G/A;C snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs562436976
rs562436976 		1.000 6 31120157 intron variant G/A;C snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs562436976
rs562436976 		1.000 6 31120157 intron variant G/A;C snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs562436976
rs562436976 		1.000 6 31120157 intron variant G/A;C snv
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: 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: 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