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: rs1565569158
rs1565569158
ATN1
12 6939148 missense variant A/G snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs180177039
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs483352822
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs61729366
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs759125480
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0