BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
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: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 1.000 2 2012 2015
dbSNP: rs35107139
rs35107139 		0.776 0.080 14 53952388 intron variant A/C;G;T snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2019 2019
dbSNP: rs35107139
rs35107139 		0.776 0.080 14 53952388 intron variant A/C;G;T snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2019 2019
dbSNP: rs35107139
rs35107139 		0.776 0.080 14 53952388 intron variant A/C;G;T snv
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2019 2019
dbSNP: rs35107139
rs35107139 		0.776 0.080 14 53952388 intron variant A/C;G;T snv
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2019 2019
dbSNP: rs10130587
rs10130587 		0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2018 2018
dbSNP: rs140920120
rs140920120 		0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2013 2013
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2018 2018
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2017 2017
dbSNP: rs2071047
rs2071047 		14 53951693 3 prime UTR variant G/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs35107139
rs35107139 		0.776 0.080 14 53952388 intron variant A/C;G;T snv
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs762642
rs762642 		1.000 0.040 14 53956335 splice region variant A/C snv 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs762642
rs762642 		1.000 0.040 14 53956335 splice region variant A/C snv 0.35
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200671094
rs200671094 		0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs200671094
rs200671094 		0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs200671094
rs200671094 		0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs376960358
rs376960358 		1.000 0.080 14 53951861 missense variant T/C snv 3.4E-04 1.5E-04
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs387906597
rs387906597 		0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121912765
rs121912765 		0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C1864689
Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder)
MICROPHTHALMIA, SYNDROMIC 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs387906597
rs387906597 		0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C1864689
Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder)
MICROPHTHALMIA, SYNDROMIC 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs767216159
rs767216159 		0.925 0.160 14 53950809 missense variant G/A;C snv 1.2E-04; 1.2E-05
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121912765
rs121912765 		0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10130587
rs10130587 		0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018