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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.020 1.000 2 2006 2014
dbSNP: rs28936670
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.020 1.000 2 2013 2019
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2012 2012
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2012 2012
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2014 2014
dbSNP: rs1232197674
rs1232197674
TFAP2B
0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2019 2019
dbSNP: rs12435998
rs12435998
SEL1L
0.851 0.200 14 81506329 intron variant T/C snv 0.14
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2012 2012
dbSNP: rs1383983021
rs1383983021
EIF2AK3
0.882 0.160 2 88588014 missense variant T/C snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 < 0.001 1 2013 2013
dbSNP: rs1799853
rs1799853
CYP2C9
0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2017 2017
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2008 2008
dbSNP: rs2153628
rs2153628
CYP2C9
1.000 0.080 10 94963667 intron variant A/G snv 0.19
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2017 2017
dbSNP: rs2234584
rs2234584
WT1
0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2004 2004
dbSNP: rs2277923
rs2277923
NKX2-5
0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2019 2019
dbSNP: rs2635727
rs2635727 		1.000 0.080 6 50853227 downstream gene variant T/C;G snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 < 0.001 1 2010 2010
dbSNP: rs2817399
rs2817399
TFAP2B
1.000 0.080 6 50836808 intron variant A/G snv 0.42
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2010 2010
dbSNP: rs2817419
rs2817419
TFAP2B
0.925 0.160 6 50845193 3 prime UTR variant G/A snv 0.73
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 < 0.001 1 2010 2010
dbSNP: rs368418329
rs368418329
GATA4
0.925 0.120 8 11708019 5 prime UTR variant G/T snv 5.9E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2019 2019
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2016 2016
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
0.752 0.280 10 88941309 missense variant C/T snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2014 2014
dbSNP: rs56166237
rs56166237
GATA4
0.882 0.120 8 11708411 missense variant G/T snv 3.6E-03 2.0E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2019 2019
dbSNP: rs6489957
rs6489957
TBX5
0.925 0.120 12 114355808 synonymous variant G/A snv 4.4E-03 1.7E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2019 2019
dbSNP: rs730880413
rs730880413
BRAF
0.925 0.080 7 140801460 missense variant C/T snv 4.0E-06
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2012 2012