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: 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: rs121912766
rs121912766 		1.000 0.120 14 53950222 missense variant G/A snv
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2009 2009
dbSNP: rs121912768
rs121912768 		1.000 0.120 14 53950399 missense variant C/A;T snv 8.2E-04
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2009 2009
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: 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: 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: rs387906597
rs387906597 		0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System 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: rs767216159
rs767216159 		0.925 0.160 14 53950809 missense variant G/A;C snv 1.2E-04; 1.2E-05
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
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: rs387906597
rs387906597 		0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0