Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs4988235
MCM6
0.752 0.400 2 135851076 intron variant G/A;C snv 19
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 14
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv 9
rs121912678
ACVR1
0.851 0.080 2 157774114 missense variant C/G;T snv 8
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv 8
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv 7
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv 7
rs121918355
LTBP2
0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 7
rs368705607
MIXL1
0.882 0.120 1 226225766 missense variant T/C;G snv 2.8E-05; 4.0E-06 7
rs104894378
TBX5
0.882 0.120 12 114385521 missense variant C/G;T snv 6
rs104893951
FOXC1
0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 5
rs104894381
TBX5
0.925 0.120 12 114401830 missense variant C/T snv 5
rs587777108
ATL3 ; LOC107984336
0.925 0.080 11 63646550 missense variant T/C snv 5
rs1554442016
TWIST1
0.882 0.080 7 19116972 missense variant T/A;C snv 4