GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
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: rs374016704
rs374016704
0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2007 2017
dbSNP: rs121434424
rs121434424
1.000 0.080 19 18869231 missense variant C/A;T snv 2.1E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 1 2007 2007
dbSNP: rs200024180
rs200024180
1.000 19 18884128 missense variant G/A;C snv 4.9E-05
CUI: C4015619
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
EPILEPSY, PROGRESSIVE MYOCLONIC, 8
0.800 1.000 1 2014 2014
dbSNP: rs374016704
rs374016704
0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 2016 2017
dbSNP: rs121434422
rs121434422
0.882 0.120 19 18869035 stop gained G/A;C;T snv
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs121434423
rs121434423
0.925 0.080 19 18868916 missense variant C/T snv 7.2E-06
CONOTRUNCAL HEART MALFORMATIONS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs864622513
rs864622513
1.000 0.080 19 18868791 missense variant A/G snv 1.1E-03 1.1E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1064793138
rs1064793138
1.000 0.080 19 18868764 missense variant C/T snv 1.7E-05 2.1E-05
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121434422
rs121434422
0.882 0.120 19 18869035 stop gained G/A;C;T snv
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121434422
rs121434422
0.882 0.120 19 18869035 stop gained G/A;C;T snv
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121434423
rs121434423
0.925 0.080 19 18868916 missense variant C/T snv 7.2E-06
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs374016704
rs374016704
0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs561672108
rs561672108
1.000 19 18893551 stop gained G/A snv
CUI: C4015619
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
EPILEPSY, PROGRESSIVE MYOCLONIC, 8
0.700 0
dbSNP: rs606231383
rs606231383
1.000 0.120 19 18868806 frameshift variant -/G delins 2.1E-04 2.2E-04
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs753643819
rs753643819
1.000 0.120 19 18868624 inframe deletion CAT/- del
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs768027510
rs768027510
1.000 0.120 19 18868666 frameshift variant AGAA/- delins 5.4E-06; 6.5E-05 4.9E-05
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs181317402
rs181317402
0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs181317402
rs181317402
0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs181317402
rs181317402
0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4808863
rs4808863
0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4808863
rs4808863
0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30
Left ventricular outflow tract obstruction
0.010 1.000 1 2015 2015
dbSNP: rs4808863
rs4808863
0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4808863
rs4808863
0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4808863
rs4808863
0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4808870
rs4808870
1.000 19 18878511 3 prime UTR variant T/C snv 0.91
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
0.010 1.000 1 2013 2013