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: rs121912765
rs121912765
0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06
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: 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: rs35107139
rs35107139
0.776 0.080 14 53952388 intron variant A/C;G;T snv
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
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
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
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
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: rs121912767
rs121912767
1.000 0.120 14 53951951 missense variant G/C snv 1.8E-04 1.7E-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: 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: 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: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs387906597
rs387906597
0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
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: rs770493925
rs770493925
1.000 0.120 14 53950774 missense variant C/T snv 1.8E-04 4.2E-05
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
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: rs10130587
rs10130587
0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10130587
rs10130587
0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10130587
rs10130587
0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
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
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