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: rs16835979
rs16835979
STX18-AS1
0.851 0.120 4 4633549 intron variant C/A snv 0.20
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.030 1.000 3 2014 2016
dbSNP: rs6824295
rs6824295
STX18-AS1
0.851 0.120 4 4612553 intron variant C/T snv 0.20
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.030 1.000 3 2014 2016
dbSNP: rs2277923
rs2277923
NKX2-5
0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.020 1.000 2 2016 2019
dbSNP: rs870142
rs870142
STX18-AS1
0.851 0.120 4 4646320 intron variant C/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.020 1.000 2 2015 2016
dbSNP: rs104893900
rs104893900
NKX2-5
1.000 5 173233011 missense variant G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2003 2003
dbSNP: rs104893907
rs104893907
NKX2-5
1.000 5 173232776 stop gained A/C;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2006 2006
dbSNP: rs104894073
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2019 2019
dbSNP: rs111862418
rs111862418
TBX20
7 35204548 missense variant A/C;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2015 2015
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2006 2006
dbSNP: rs1340513
rs1340513
KDM4C
0.882 0.120 9 6977633 intron variant G/A snv 0.75
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2010 2010
dbSNP: rs1345146178
rs1345146178
NKX2-5
5 173233003 stop gained G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2017 2017
dbSNP: rs1346496644
rs1346496644
CCN1
1 85581440 missense variant C/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2015 2015
dbSNP: rs137852952
rs137852952
TLL1
1.000 0.080 4 166003471 missense variant T/C snv 2.1E-04 2.4E-04
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2009 2009
dbSNP: rs1390448535
rs1390448535
NOS3
7 151007245 missense variant C/G snv 4.2E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2010 2010
dbSNP: rs1393297693
rs1393297693
SRF
1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2019 2019
dbSNP: rs141441277
rs141441277
SYTL4
0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2019 2019
dbSNP: rs143978652
rs143978652
MYH6
0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2011 2011
dbSNP: rs147405081
rs147405081
TBX5
12 114366360 missense variant C/T snv 1.2E-03 4.1E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2008 2008
dbSNP: rs1800692
rs1800692
TNFRSF1A
0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2013 2013
dbSNP: rs1801198
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2019 2019
dbSNP: rs199715380
rs199715380
CFC1
2 130597533 missense variant C/T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2007 2007
dbSNP: rs199865688
rs199865688
MYBPC3
0.925 0.080 11 47337496 missense variant C/T snv 1.5E-03 1.2E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2011 2011
dbSNP: rs2228638
rs2228638
NRP1
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2014 2014
dbSNP: rs2298444
rs2298444
FOLR2
0.925 0.120 11 72221370 intron variant T/C snv 0.27
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2019 2019