CLDN1, claudin 1, 9076

N. diseases: 192; N. variants: 4
Source: BEFREE ×
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: rs140846629
rs140846629 		3 190312890 missense variant C/T snv 4.2E-03 4.3E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs17501010
rs17501010 		0.827 0.320 3 190308865 intron variant G/T snv 0.15
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17501010
rs17501010 		0.827 0.320 3 190308865 intron variant G/T snv 0.15
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs17501010
rs17501010 		0.827 0.320 3 190308865 intron variant G/T snv 0.15
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17501010
rs17501010 		0.827 0.320 3 190308865 intron variant G/T snv 0.15
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		Nervous System Diseases; Mental Disorders; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17501010
rs17501010 		0.827 0.320 3 190308865 intron variant G/T snv 0.15
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs893051
rs893051 		0.807 0.400 3 190321812 intron variant G/A;C snv
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		Nervous System Diseases; Mental Disorders; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs893051
rs893051 		0.807 0.400 3 190321812 intron variant G/A;C snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs893051
rs893051 		0.807 0.400 3 190321812 intron variant G/A;C snv
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs893051
rs893051 		0.807 0.400 3 190321812 intron variant G/A;C snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs893051
rs893051 		0.807 0.400 3 190321812 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs893051
rs893051 		0.807 0.400 3 190321812 intron variant G/A;C snv
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs893051
rs893051 		0.807 0.400 3 190321812 intron variant G/A;C snv
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9869263
rs9869263 		0.925 0.080 3 190312891 synonymous variant A/C;G;T snv 8.0E-06; 0.83; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs9869263
rs9869263 		0.925 0.080 3 190312891 synonymous variant A/C;G;T snv 8.0E-06; 0.83; 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs9869263
rs9869263 		0.925 0.080 3 190312891 synonymous variant A/C;G;T snv 8.0E-06; 0.83; 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014