Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.020 1.000 2 2007 2012
dbSNP: rs6993770
rs6993770
ZFPM2 ; ZFPM2-AS1
0.925 0.080 8 105569300 intron variant A/T snv 0.31
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.020 1.000 2 2018 2018
dbSNP: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.010 1.000 1 2014 2014
dbSNP: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2012 2012
dbSNP: rs121908604
rs121908604
ZFPM2 ; ZFPM2-AS1
0.925 0.080 8 105802609 missense variant A/G snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.010 1.000 1 2007 2007
dbSNP: rs1448468136
rs1448468136
ZFPM2 ; ZFPM2-AS1
1.000 0.080 8 105802610 missense variant C/A;T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.010 1.000 1 2014 2014
dbSNP: rs146423225
rs146423225
ZFPM2 ; ZFPM2-AS1
0.925 0.120 8 105802747 stop gained C/G;T snv 1.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2012 2012
dbSNP: rs146423225
rs146423225
ZFPM2 ; ZFPM2-AS1
0.925 0.120 8 105802747 stop gained C/G;T snv 1.1E-02
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.010 1.000 1 2012 2012
dbSNP: rs185077999
rs185077999
ZFPM2 ; ZFPM2-AS1
0.925 0.160 8 105801293 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.010 1.000 1 2009 2009
dbSNP: rs185077999
rs185077999
ZFPM2 ; ZFPM2-AS1
0.925 0.160 8 105801293 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		0.010 1.000 1 2009 2009
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.010 1.000 1 2011 2011
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2011 2011
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.010 1.000 1 2011 2011
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2011 2011
dbSNP: rs6993770
rs6993770
ZFPM2 ; ZFPM2-AS1
0.925 0.080 8 105569300 intron variant A/T snv 0.31
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 1.000 1 2017 2017