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: 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: rs121917820
rs121917820
0.925 0.040 6 31117017 stop gained G/A snv
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp
Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906841
rs387906841
1.000 0.080 6 31117440 stop gained T/A snv 6.1E-06 4.2E-05
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: 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: rs606231275
rs606231275
1.000 0.080 6 31117191 stop gained C/A snv
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: 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: 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: 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: rs3094212
rs3094212
1.000 6 31117993 non coding transcript exon variant G/A snv 0.58
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
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
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
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
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
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
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
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
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
0.700 1.000 2 2009 2010