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: 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: rs121917820
rs121917820 		0.925 0.040 6 31117017 stop gained G/A snv
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs121917820
rs121917820 		0.925 0.040 6 31117017 stop gained G/A snv
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs3094211
rs3094211 		1.000 6 31118625 non coding transcript exon variant G/A;C snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs3094211
rs3094211 		1.000 6 31118625 non coding transcript exon 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 1 2010 2010
dbSNP: rs3094211
rs3094211 		1.000 6 31118625 non coding transcript exon variant G/A;C snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs3094211
rs3094211 		1.000 6 31118625 non coding transcript exon variant G/A;C snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs3095318
rs3095318 		1.000 0.080 6 31120368 missense variant T/A;G snv 0.15; 4.7E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
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