Source: CLINVAR

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: rs1556009247
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1564062144
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
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: rs1567053134
rs1567053134
CYP11A1
0.925 0.040 15 74345160 frameshift variant AG/- del
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
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: 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: 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: 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: 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
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: 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: rs1565307564
rs1565307564
MYRF ; TMEM258
0.807 0.120 11 61783599 missense variant A/G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs367557471
rs367557471
CHD7
1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs398123278
rs398123278
MMUT
0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs886042604
rs886042604
DMD
1.000 0.120 X 33020138 splice donor variant C/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
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: 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: 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: 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: rs759125480
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;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: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0