BDNF, brain derived neurotrophic factor, 627

N. diseases: 992; N. variants: 56
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: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 0.500 2 2006 2013
dbSNP: rs759834365
rs759834365 		0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 0.500 2 2006 2013
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs759834365
rs759834365 		0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0011603
Disease: Dermatitis
Dermatitis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs746682028
rs746682028 		0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs759834365
rs759834365 		0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs759834365
rs759834365 		0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs746682028
rs746682028 		0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs759834365
rs759834365 		0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs759834365
rs759834365 		0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs893924483
rs893924483 		0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs10767664
rs10767664 		0.752 0.400 11 27704439 intron variant T/A snv 0.83
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2011 2015
dbSNP: rs10767664
rs10767664 		0.752 0.400 11 27704439 intron variant T/A snv 0.83
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2011 2016
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2015 2015
dbSNP: rs759834365
rs759834365 		0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2015 2015
dbSNP: rs10767664
rs10767664 		0.752 0.400 11 27704439 intron variant T/A snv 0.83
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11030100
rs11030100 		1.000 0.080 11 27656039 3 prime UTR variant G/T snv 0.17
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11030101
rs11030101 		0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs8192466
rs8192466 		1.000 0.120 11 27658560 missense variant G/A;T snv 1.3E-03; 1.6E-04
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 1.000 2 2002 2010