Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
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
rs806368
CNR1
0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 14
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 14
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 12
rs79204362
CYP1B1
0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 10
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv 9
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
rs12720071
CNR1
0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 7
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv 8
rs57865060
CYP1B1-AS1 ; CYP1B1
0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 6
rs121912678
ACVR1
0.851 0.080 2 157774114 missense variant C/G;T snv 8
rs7650466
EPHA3
0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 7
rs104893951
FOXC1
0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 5
rs121909173
HESX1
0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 5
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
rs527236031
PIGT ; MIR6812
0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 5