DEFB1, defensin beta 1, 1672

N. diseases: 177; N. variants: 8
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: rs11362
rs11362 		0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs1800971
rs1800971 		0.882 0.120 8 6870594 3 prime UTR variant T/C snv 8.0E-02
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs5743409
rs5743409 		0.925 0.120 8 6879098 intron variant C/A;G 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 2009 2009
dbSNP: rs5743409
rs5743409 		0.925 0.120 8 6879098 intron variant C/A;G snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11362
rs11362 		0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40
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 2010 2010
dbSNP: rs11362
rs11362 		0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1799946
rs1799946 		0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1799946
rs1799946 		0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41
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 2010 2010
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
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 2010 2010
dbSNP: rs11362
rs11362 		0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40
CUI: C0022568
Disease: Keratitis
Keratitis 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1799946
rs1799946 		0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41
CUI: C0022568
Disease: Keratitis
Keratitis 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0022568
Disease: Keratitis
Keratitis 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11362
rs11362 		0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2014 2018
dbSNP: rs11362
rs11362 		0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.030 1.000 3 2014 2018
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2014 2016
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.020 1.000 2 2014 2016
dbSNP: rs11362
rs11362 		0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11362
rs11362 		0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2014 2014
dbSNP: rs1799946
rs1799946 		0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2014 2014
dbSNP: rs1799946
rs1799946 		0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2014 2014
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0006840
Disease: Candidiasis
Candidiasis 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0679362
Disease: Tuberculosis, extrapulmonary
Tuberculosis, extrapulmonary 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.030 0.667 3 2015 2019