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: 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: rs139871607
rs139871607
AXIN2
1 1.000 0.080 17 65538235 missense variant T/C snv 7.3E-04 7.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs1418913084
rs1418913084
AXIN2
1 1.000 0.080 17 65541504 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
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: 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: 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: 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
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: rs3764897
rs3764897
PLD2
1 1.000 0.080 17 4819581 missense variant G/A;C snv 0.15; 4.1E-06 0.010 1.000 1 2011 2011
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: rs6445606
rs6445606
CHDH
1 1.000 0.080 3 53822023 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs67682641
rs67682641
COL1A1
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs67707918
rs67707918
COL1A2
2 0.925 0.080 7 94410501 missense variant G/A;T snv 0.010 1.000 1 2012 2012
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: 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: rs752881223
rs752881223
AXIN2
2 0.925 0.080 17 65558307 missense variant A/C;G snv 0.010 1.000 1 2015 2015
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: rs776377834
rs776377834
PAX9
1 1.000 0.080 14 36676436 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs779059411
rs779059411
PAX9
2 0.925 0.080 14 36666492 missense variant A/C;G snv 8.4E-06 0.010 1.000 1 2008 2008
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
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