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: rs317250
rs317250 		1 1.000 2 76036546 intron variant C/T snv 0.96 0.010 1.000 1 2016 2016
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: 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: rs121908568
rs121908568
AXIN2
9 0.807 0.160 17 65536495 stop gained G/A snv 0.010 1.000 1 2016 2016
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: rs15705
rs15705
BMP2
1 1.000 20 6779333 3 prime UTR variant A/C;T snv 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: rs483352804
rs483352804
EDA
2 0.925 0.080 X 70035389 missense variant G/A;T snv 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: rs1444216093
rs1444216093
EVC2
1 1.000 4 5632031 missense variant G/A;C snv 0.010 1.000 1 2019 2019
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: rs752627281
rs752627281
FGFR1
1 1.000 8 38419631 missense variant C/T snv 2.4E-05 6.3E-05 0.010 1.000 1 2007 2007
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: rs1292564852
rs1292564852
FGFR3
1 1.000 4 1805414 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
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: 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: rs11806449
rs11806449
GREM2
1 1.000 1 240493497 intron variant G/A snv 0.21 0.17 0.010 < 0.001 1 2018 2018
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: 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