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: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2014 2014
dbSNP: rs2702945
rs2702945 		8 6877165 intron variant T/C snv 0.70
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5743467
rs5743467 		0.925 0.040 8 6874007 intron variant C/G snv 0.19
CUI: C4722014
Disease: Kynurenine Measurement
Kynurenine Measurement 		0.700 1.000 1 2018 2018
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: 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: 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: 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: 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: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11362
rs11362 		0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40
CUI: C0012242
Disease: Digestive System Disorders
Digestive System Disorders 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799946
rs1799946 		0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41
CUI: C0012242
Disease: Digestive System Disorders
Digestive System Disorders 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799946
rs1799946 		0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
CUI: C0012242
Disease: Digestive System Disorders
Digestive System Disorders 		Digestive System Diseases 0.010 1.000 1 2015 2015
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: 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: 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: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs5743467
rs5743467 		0.925 0.040 8 6874007 intron variant C/G snv 0.19
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs5743467
rs5743467 		0.925 0.040 8 6874007 intron variant C/G snv 0.19
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1800972
rs1800972 		0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79
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 2019 2019