Source: ALL

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: rs1557962794
rs1557962794
RIT1
0.882 0.160 1 155910693 missense variant T/G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
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: rs375349466
rs375349466
TLL1
4 166003545 missense variant A/G snv 8.0E-06 2.8E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2016 2016
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: rs879253754
rs879253754
NKX2-5
1.000 5 173232792 frameshift variant T/- delins
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1554093433
rs1554093433
NKX2-5
0.925 0.080 5 173232833 stop gained G/T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs3729753
rs3729753
NKX2-5
1.000 0.040 5 173232938 synonymous variant C/G snv 9.9E-03 2.2E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2019 2019
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: 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: rs758277832
rs758277832
NKX2-5
1.000 0.080 5 173233109 missense variant G/C snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2018 2018
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: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
0.882 0.120 2 178577785 stop gained G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs746365549
rs746365549
TTN
2 178782573 missense variant C/A;T snv 8.0E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2011 2011
dbSNP: rs868064163
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs863225119
rs863225119
TNNT2
0.882 0.080 1 201359632 missense variant T/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2011 2011
dbSNP: rs387906816
rs387906816
GATA6
0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2010 2010
dbSNP: rs1555628863
rs1555628863
GATA6
0.925 0.080 18 22172215 frameshift variant G/- delins
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 1.000 1 2014 2014
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: rs121913528
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2016 2016
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2016 2016
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