Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
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
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
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
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 17
rs2277923
NKX2-5
0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 13
rs387906769
GATA4
0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 7
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs11066188
HECTD4
0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 7
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv 6
rs104893904
NKX2-5
0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 6
rs115099192
GATA4
0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 5
rs11066320
PTPN11
0.925 0.120 12 112468611 intron variant A/G snv 0.70 5