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: rs758420403
rs758420403
EVC2
1 1.000 4 5689210 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs15705
rs15705
BMP2
1 1.000 20 6779333 3 prime UTR variant A/C;T snv 0.010 1.000 1 2016 2016
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: 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: rs7802
rs7802
IRF6 ; C1orf74
1 1.000 1 209785814 3 prime UTR variant A/G snv 7.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs861019
rs861019
IRF6
2 0.925 0.120 1 209802041 splice region variant A/G snv 0.44 0.010 1.000 1 2007 2007
dbSNP: rs994158401
rs994158401
MSX1
1 1.000 4 4860050 missense variant A/G snv 1.4E-03 1.7E-04 0.010 1.000 1 2003 2003
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: 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: 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: rs140920120
rs140920120
BMP4
2 0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04 0.010 1.000 1 2013 2013
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: 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: 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: 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
dbSNP: rs114632254
rs114632254
EDARADD
1 1.000 1 236482309 missense variant C/T snv 2.1E-02 2.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs1292564852
rs1292564852
FGFR3
1 1.000 4 1805414 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1315861554
rs1315861554
TGIF1
2 0.925 0.120 18 3457392 missense variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs17015215
rs17015215
IRF6
1 1.000 1 209790735 missense variant C/T snv 0.010 1.000 1 2007 2007
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: rs2268626
rs2268626
TGFB3 ; IFT43
1 1.000 14 75978424 intron variant C/T snv 0.80 0.010 1.000 1 2012 2012
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