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: rs1245560
rs1245560
SPOCK2
1.000 0.080 10 72077662 intron variant A/C snv 0.51
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.710 1.000 1 2011 2011
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.070 0.571 7 2003 2015
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.070 0.571 7 2003 2015
dbSNP: rs10994336
rs10994336
ANK3
0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.020 0.500 2 2011 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.020 0.500 2 2011 2015
dbSNP: rs2070744
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.020 1.000 2 2015 2015
dbSNP: rs2230912
rs2230912
P2RX7 ; LOC105370032
0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.020 1.000 2 2009 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.020 < 0.001 2 2011 2015
dbSNP: rs746682028
rs746682028
BDNF ; BDNF-AS
0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.020 0.500 2 2003 2010
dbSNP: rs1042606
rs1042606
DUSP5
1.000 0.080 10 110510917 3 prime UTR variant A/C snv 0.64
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2020 2020
dbSNP: rs11199993
rs11199993
FGFR2
0.925 0.120 10 121531750 intron variant G/C snv 4.8E-02
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2012 2012
dbSNP: rs11265269
rs11265269 		1.000 0.080 1 159758337 upstream gene variant T/C snv 0.26
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2017 2017
dbSNP: rs1128306
rs1128306
HLA-A ; HCG9
0.925 0.120 6 29975492 non coding transcript exon variant G/A snv 0.22
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2012 2012
dbSNP: rs12290811
rs12290811
TENM4
0.882 0.120 11 79372576 intron variant T/A snv 0.18
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2014 2014
dbSNP: rs1311223100
rs1311223100
SLC18A1
0.925 0.120 8 20180955 frameshift variant T/- del 5.2E-06
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2006 2006
dbSNP: rs1344706
rs1344706
ZNF804A
0.701 0.160 2 184913701 intron variant A/C;T snv
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2017 2017
dbSNP: rs1386494
rs1386494
TPH2
0.790 0.120 12 71958763 intron variant T/C;G snv 0.82
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 < 0.001 1 2015 2015
dbSNP: rs1390938
rs1390938
SLC18A1
0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2006 2006
dbSNP: rs1457319153
rs1457319153
DAG1
1.000 0.080 3 49531991 missense variant A/C snv 4.0E-06
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2007 2007
dbSNP: rs1497020
rs1497020
SLC18A1
0.925 0.120 8 20144915 3 prime UTR variant G/A snv 0.75
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2006 2006
dbSNP: rs1610037
rs1610037
ADCYAP1
0.925 0.120 18 910634 3 prime UTR variant A/G snv 0.26
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2008 2008
dbSNP: rs165599
rs165599
ARVCF ; COMT
0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2007 2007
dbSNP: rs1705236
rs1705236
TSPAN8
0.827 0.200 12 71151778 intron variant T/A snv 7.6E-02
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 < 0.001 1 2010 2010
dbSNP: rs17135889
rs17135889
ABCA3
0.925 0.080 16 2337259 intron variant G/A snv 0.11
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2016 2016
dbSNP: rs174576
rs174576
FADS2
0.851 0.200 11 61836038 intron variant C/A;T snv
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2018 2018