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: 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: 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: rs78479381
rs78479381 		1.000 0.040 6 31118647 non coding transcript exon variant A/T snv 5.8E-02
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
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: rs541820233
rs541820233 		1.000 0.080 6 31119577 intron variant C/T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
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: rs4410768
rs4410768 		1.000 0.080 6 31121931 intron variant A/G snv 1.3E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3130983
rs3130983 		0.925 0.120 6 31117015 synonymous variant C/T snv 0.57 0.58
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3095324
rs3095324 		1.000 0.200 6 31119356 intron variant C/T snv 0.35
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs386579334
rs386579334 		1.000 0.200 6 31119356 intron variant C/T snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3094214
rs3094214 		0.925 0.120 6 31117605 non coding transcript exon variant C/A snv 0.58
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs540385376
rs540385376 		0.925 0.120 6 31117605 non coding transcript exon variant C/A snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
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: rs1042134
rs1042134 		1.000 6 31115887 3 prime UTR variant G/A snv 0.58
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs1042134
rs1042134 		1.000 6 31115887 3 prime UTR 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 1 2010 2010
dbSNP: rs1042134
rs1042134 		1.000 6 31115887 3 prime UTR variant G/A snv 0.58
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs1042134
rs1042134 		1.000 6 31115887 3 prime UTR variant G/A 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: 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