Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 41
rs1570360
VEGFA
0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 38
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs17696736
NAA25
0.827 0.240 12 112049014 intron variant A/G snv 0.30 18
rs11065987 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 17
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv 6
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs11066320
PTPN11
0.925 0.120 12 112468611 intron variant A/G snv 0.70 5
rs17153694
GATA4
0.851 0.160 8 11730972 intron variant C/T snv 0.12 4
rs121918351
JAG1
0.882 0.240 20 10658611 missense variant C/T snv 3
rs1554034812
NIPBL
0.925 0.240 5 37058938 frameshift variant G/- delins 3
rs181317402
CERS1 ; GDF1
0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 3
rs387906818
GATA6
0.882 0.120 18 22181516 missense variant C/T snv 3
rs4841587
GATA4
1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37 3
rs4841588
GATA4
1.000 0.080 8 11756716 non coding transcript exon variant G/T snv 0.19 3
rs104893902
NKX2-5
0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06 2
rs1569484124
ATP8 ; COX2 ; COX1 ; ATP6
0.925 0.080 MT 6925 frameshift variant C/- delins 2
rs864321699
GATA4
1.000 0.080 8 11708337 missense variant G/A;C snv 2