Disease: Atrial Septal Defects
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 12
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9