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: rs2030323
rs2030323 		0.925 0.080 11 27706992 intron variant A/C snv 0.83
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.800 1.000 1 2009 2009
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 7 2009 2019
dbSNP: rs11030104
rs11030104 		0.790 0.240 11 27662970 intron variant A/G snv 0.16
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 6 2014 2019
dbSNP: rs1554931219
rs1554931219 		11 27658063 stop gained C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2001 2018
dbSNP: rs1554931219
rs1554931219 		11 27658063 stop gained C/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 6 2001 2018
dbSNP: rs2030323
rs2030323 		0.925 0.080 11 27706992 intron variant A/C snv 0.83
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 4 2012 2019
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 3 2009 2013
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 3 2009 2013
dbSNP: rs10767664
rs10767664 		0.752 0.400 11 27704439 intron variant T/A snv 0.83
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 2 2010 2013
dbSNP: rs10767664
rs10767664 		0.752 0.400 11 27704439 intron variant T/A snv 0.83
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2010 2019
dbSNP: rs10767664
rs10767664 		0.752 0.400 11 27704439 intron variant T/A snv 0.83
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 2 2010 2013
dbSNP: rs11030119
rs11030119 		11 27706555 intron variant G/A;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2017 2017
dbSNP: rs2030323
rs2030323 		0.925 0.080 11 27706992 intron variant A/C snv 0.83
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 2 2012 2013
dbSNP: rs2030323
rs2030323 		0.925 0.080 11 27706992 intron variant A/C snv 0.83
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 2 2012 2013
dbSNP: rs2049045
rs2049045 		1.000 0.080 11 27672694 intron variant G/A;C snv 0.13
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2017 2019
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 2 2010 2019
dbSNP: rs6265
rs6265 		0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 2 2010 2012
dbSNP: rs7103411
rs7103411 		0.752 0.160 11 27678578 intron variant C/T snv 0.82
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 2 2014 2018
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
dbSNP: rs10835211
rs10835211 		1.000 0.080 11 27679818 intron variant G/A snv 0.19
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs10835211
rs10835211 		1.000 0.080 11 27679818 intron variant G/A snv 0.19
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs11030100
rs11030100 		1.000 0.080 11 27656039 3 prime UTR variant G/T snv 0.17
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs11030102
rs11030102 		11 27660049 non coding transcript exon variant C/G snv 0.19
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs11030102
rs11030102 		11 27660049 non coding transcript exon variant C/G snv 0.19
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017