Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12881240
rs12881240
PAX9
1 1.000 0.080 14 36666547 missense variant C/G;T snv 4.9E-06; 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1392844787
rs1392844787
ZNF569
2 0.925 0.080 19 37413765 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs374534090
rs374534090
PAX9 ; LOC105370455
2 0.925 0.080 14 36663506 missense variant G/A;C;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2014 2014
dbSNP: rs377467108
rs377467108
EZH2
3 0.882 0.120 7 148827254 missense variant C/A;T snv 6.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs7143727
rs7143727
PAX9
2 0.925 0.080 14 36666400 non coding transcript exon variant G/C snv 4.7E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs754287422
rs754287422
PAX9 ; LOC105370455
2 0.925 0.080 14 36663308 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs752881223
rs752881223
AXIN2
2 0.925 0.080 17 65558307 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs147680216
rs147680216
WNT10A
11 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 0.010 1.000 1 2017 2017
dbSNP: rs750190755
rs750190755
WNT10A
3 0.882 0.080 2 218893087 missense variant C/T snv 4.1E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121908120
rs121908120
WNT10A
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.810 1.000 2 2018 2019
dbSNP: rs142343894
rs142343894
GREM2
4 0.851 0.080 1 240493250 missense variant G/C snv 1.7E-03 1.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs2034604
rs2034604
ARHGAP15
8 0.776 0.160 2 143201176 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs35822372
rs35822372 		8 0.776 0.160 2 88438931 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs35956082
rs35956082
FOXP1
8 0.776 0.160 3 71414748 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4498834
rs4498834
CACNA1S
8 0.776 0.160 1 201111170 intron variant T/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs55846652
rs55846652 		8 0.776 0.160 X 69564858 downstream gene variant T/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs758468472
rs758468472
NOL11 ; LOC101928045
8 0.776 0.160 17 67718094 splice region variant G/T snv 0.700 1.000 1 2018 2018
dbSNP: rs917412
rs917412 		8 0.776 0.160 4 108350621 TF binding site variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs121908119
rs121908119
WNT10A ; LOC107984111
10 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs121909637
rs121909637
FGFR1
3 0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs2240308
rs2240308
AXIN2
18 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 0.010 1.000 1 2019 2019
dbSNP: rs374910216
rs374910216
WNT10A ; LOC107984111
3 0.882 0.080 2 218882358 missense variant G/A snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs8670
rs8670
MSX1
4 0.925 0.080 4 4863149 3 prime UTR variant C/T snv 0.22 0.23 0.010 1.000 1 2019 2019