Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2268626
IFT43 ; TGFB3
1.000 14 75978424 intron variant C/T snv 0.80 1
rs317250 1.000 2 76036546 intron variant C/T snv 0.96 1
rs752627281
FGFR1
1.000 8 38419631 missense variant C/T snv 2.4E-05 6.3E-05 1
rs2240308
AXIN2
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 18
rs147680216
WNT10A
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 11
rs121908568
AXIN2
0.807 0.160 17 65536495 stop gained G/A snv 9
rs61735045
COL5A1
0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02 3
rs11806449
GREM2
1.000 1 240493497 intron variant G/A snv 0.21 0.17 1
rs929387
GLI3
0.851 0.080 7 41966080 missense variant G/A;C snv 0.43; 5.7E-06 4
rs1444216093
EVC2
1.000 4 5632031 missense variant G/A;C snv 1
rs771803303
TGM2
0.882 0.160 20 38148005 missense variant G/A;C;T snv 1.6E-05; 4.1E-06 3
rs104894469
LOC105370455 ; PAX9
0.925 0.080 14 36663043 missense variant G/A;T snv 4.0E-06 2
rs483352804
EDA
0.925 0.080 X 70035389 missense variant G/A;T snv 2
rs4904210
PAX9
0.851 0.080 14 36666548 missense variant G/C snv 0.36 0.33 5
rs121908120
WNT10A
0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 19
rs3178250
BMP2
0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21 5
rs8049367 0.851 0.240 16 3930444 downstream gene variant T/C snv 0.37 4
rs28933970
PAX9 ; LOC105370455
0.925 0.080 14 36662954 missense variant T/C snv 2
rs777307167
WNT10A
1.000 2 218890128 missense variant T/C snv 1.2E-05 1