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
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
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
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
rs806368
CNR1
0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 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
rs12720071
CNR1
0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 7
rs7650466
EPHA3
0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 7
rs104894378
TBX5
0.882 0.120 12 114385521 missense variant C/G;T snv 6
rs104894381
TBX5
0.925 0.120 12 114401830 missense variant C/T snv 5
rs4954218
MAP3K19
0.925 0.080 2 135045855 intron variant G/T snv 0.83 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
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv 4
rs1057517786
PDCD10
0.925 0.400 3 167704889 stop gained G/A snv 3
rs121909497
MMP13
0.925 0.080 11 102955390 missense variant A/G snv 3
rs201968272
DDX11
0.925 0.160 12 31089147 missense variant G/A snv 3