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: 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: rs1352713791
rs1352713791 		1.000 0.040 14 53950282 missense variant A/G snv 7.0E-06
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs534215890
rs534215890 		1.000 0.040 14 53950453 missense variant C/T snv 3.0E-04 9.1E-05
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.010 1.000 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: rs777406477
rs777406477 		1.000 0.040 14 53950783 missense variant C/T snv 4.8E-05 7.0E-06
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2019 2019
dbSNP: rs35107139
rs35107139 		0.776 0.080 14 53952388 intron variant A/C;G;T snv
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 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: rs35107139
rs35107139 		0.776 0.080 14 53952388 intron variant A/C;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2019 2019
dbSNP: rs35107139
rs35107139 		0.776 0.080 14 53952388 intron variant A/C;G;T snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2019 2019
dbSNP: rs1377644626
rs1377644626 		1.000 0.080 14 53950403 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
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: rs140920120
rs140920120 		0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal 		Infections; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
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: rs200671094
rs200671094 		0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C0521706
Disease: Unilateral cataract
Unilateral cataract 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs35107139
rs35107139 		0.776 0.080 14 53952388 intron variant A/C;G;T snv
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 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: 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