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: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2013 2013
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs121908120
rs121908120
WNT10A
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.010 1.000 1 2014 2014
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: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs147680216
rs147680216
WNT10A
11 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 0.020 1.000 2 2016 2017
dbSNP: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.010 1.000 1 2007 2007
dbSNP: rs2252070
rs2252070
MMP13
13 0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68 0.010 1.000 1 2013 2013
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 2018 2018
dbSNP: rs17563
rs17563
BMP4
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.020 1.000 2 2012 2015
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 < 0.001 1 2020 2020
dbSNP: rs121908568
rs121908568
AXIN2
9 0.807 0.160 17 65536495 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs987525
rs987525
CCDC26
7 0.807 0.160 8 128933908 intron variant C/A snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs1800054
rs1800054
ATM
7 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2014 2014
dbSNP: rs3178250
rs3178250
BMP2
5 0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21 0.010 1.000 1 2016 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 2010 2013
dbSNP: rs8049367
rs8049367 		4 0.851 0.240 16 3930444 downstream gene variant T/C snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs929387
rs929387
GLI3
4 0.851 0.080 7 41966080 missense variant G/A;C snv 0.43; 5.7E-06 0.010 1.000 1 2013 2013
dbSNP: rs104894562
rs104894562
FOXN1
3 0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs116998555
rs116998555
WNT10A
3 0.882 0.080 2 218890118 missense variant C/A;T snv 4.0E-06; 1.9E-03 0.010 1.000 1 2016 2016
dbSNP: rs61735045
rs61735045
COL5A1
3 0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs771803303
rs771803303
TGM2
3 0.882 0.160 20 38148005 missense variant G/A;C;T snv 1.6E-05; 4.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs104894469
rs104894469
PAX9 ; LOC105370455
2 0.925 0.080 14 36663043 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1095
rs1095
MSX1
2 0.925 0.080 4 4863211 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs11001553
rs11001553
DKK1 ; PRKG1-AS1
2 0.925 0.080 10 52313141 intron variant C/T snv 0.12 0.010 1.000 1 2014 2014