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: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 1.000 2 2004 2008
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 1.000 1 2017 2017
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: rs369634007
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 1.000 1 2016 2016
dbSNP: rs527656756
rs527656756
HAAO ; MTA3
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 1.000 1 2017 2017
dbSNP: rs762292772
rs762292772
SHANK3
0.882 0.160 22 50721505 frameshift variant G/-;GG delins
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 1.000 1 2015 2015
dbSNP: rs1163944538
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-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: 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: rs132630297
rs132630297
PHF6
0.925 0.280 X 134425256 stop gained C/A;T snv
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: rs1352010373
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
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: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1553154130
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
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: rs1554700718
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1555226315
rs1555226315
TBX5
0.925 0.120 12 114398639 stop gained C/T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1555429629
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1555706928
rs1555706928
SETBP1
0.851 0.240 18 44951954 missense variant G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1555932766
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0