Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68 13
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 7
rs17563
BMP4
0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 8
rs4904210
PAX9
0.851 0.080 14 36666548 missense variant G/C snv 0.36 0.33 5
rs104894469
LOC105370455 ; PAX9
0.925 0.080 14 36663043 missense variant G/A;T snv 4.0E-06 2
rs140920120
BMP4
0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04 2
rs28933970
PAX9 ; LOC105370455
0.925 0.080 14 36662954 missense variant T/C snv 2
rs2268626
IFT43 ; TGFB3
1.000 14 75978424 intron variant C/T snv 0.80 1
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs8049367 0.851 0.240 16 3930444 downstream gene variant T/C snv 0.37 4
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
rs104894562
FOXN1
0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06 3
rs1315861554
TGIF1
0.925 0.120 18 3457392 missense variant C/T snv 4.0E-06 2
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs3178250
BMP2
0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21 5
rs771803303
TGM2
0.882 0.160 20 38148005 missense variant G/A;C;T snv 1.6E-05; 4.1E-06 3
rs15705
BMP2
1.000 20 6779333 3 prime UTR variant A/C;T snv 1
rs483352804
EDA
0.925 0.080 X 70035389 missense variant G/A;T snv 2