Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs8049367 0.851 0.240 16 3930444 downstream gene variant T/C snv 0.37 4
rs317250 1.000 2 76036546 intron variant C/T snv 0.96 1
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 7
rs2240308
AXIN2
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 18
rs121908568
AXIN2
0.807 0.160 17 65536495 stop gained G/A snv 9
rs3178250
BMP2
0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21 5
rs15705
BMP2
1.000 20 6779333 3 prime UTR variant A/C;T snv 1
rs17563
BMP4
0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 8
rs140920120
BMP4
0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04 2
rs987525
CCDC26
0.807 0.160 8 128933908 intron variant C/A snv 0.31 7
rs61735045
COL5A1
0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02 3
rs483352804
EDA
0.925 0.080 X 70035389 missense variant G/A;T snv 2
rs114632254
EDARADD
1.000 1 236482309 missense variant C/T snv 2.1E-02 2.1E-02 1
rs1444216093
EVC2
1.000 4 5632031 missense variant G/A;C snv 1
rs758420403
EVC2
1.000 4 5689210 missense variant A/C snv 4.0E-06 1
rs752627281
FGFR1
1.000 8 38419631 missense variant C/T snv 2.4E-05 6.3E-05 1
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv 17
rs1292564852
FGFR3
1.000 4 1805414 missense variant C/T snv 7.0E-06 1
rs104894562
FOXN1
0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06 3
rs929387
GLI3
0.851 0.080 7 41966080 missense variant G/A;C snv 0.43; 5.7E-06 4
rs11806449
GREM2
1.000 1 240493497 intron variant G/A snv 0.21 0.17 1
rs2268626
IFT43 ; TGFB3
1.000 14 75978424 intron variant C/T snv 0.80 1
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 11
rs861019
IRF6
0.925 0.120 1 209802041 splice region variant A/G snv 0.44 2
rs17015215
IRF6
1.000 1 209790735 missense variant C/T snv 1