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: rs121908120
rs121908120
WNT10A
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.710 1.000 2 2018 2019
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: rs1131692057
rs1131692057
PAX9 ; LOC105370455
2 0.925 0.080 14 36662092 start lost G/A snv 0.700 0
dbSNP: rs138249161
rs138249161
POLR3B
8 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs1553763618
rs1553763618
POLR3GL
4 0.925 0.040 1 145977482 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs1567755946
rs1567755946
AXIN2
2 0.925 0.080 17 65537563 frameshift variant -/CGCGGGAGGCAGC delins 0.700 0
dbSNP: rs775141057
rs775141057
POLR3B ; LOC100287944
6 0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs782661984
rs782661984
POLR3GL
4 0.925 0.040 1 145974824 splice acceptor variant G/A snv 2.3E-05 1.4E-05 0.700 0
dbSNP: rs121908568
rs121908568
AXIN2
9 0.807 0.160 17 65536495 stop gained G/A snv 0.020 1.000 2 2004 2016
dbSNP: rs4904210
rs4904210
PAX9
5 0.851 0.080 14 36666548 missense variant G/C snv 0.36 0.33 0.020 0.500 2 2011 2014
dbSNP: rs730882193
rs730882193
AXIN2
6 0.807 0.200 17 65536472 stop gained C/G;T snv 0.020 1.000 2 2011 2015
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: 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: 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: rs28933971
rs28933971
PAX9 ; LOC105370455
3 0.882 0.080 14 36662975 missense variant G/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs34165410
rs34165410
MSX1
2 0.925 0.080 4 4860247 synonymous variant C/G;T snv 4.8E-06; 6.8E-02 0.010 1.000 1 2013 2013
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