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: 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
dbSNP: rs28933970
rs28933970
PAX9 ; LOC105370455
2 0.925 0.080 14 36662954 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs317250
rs317250 		1 1.000 2 76036546 intron variant C/T snv 0.96 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: rs483352804
rs483352804
EDA
2 0.925 0.080 X 70035389 missense variant G/A;T snv 0.010 1.000 1 2014 2014
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: 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: rs758420403
rs758420403
EVC2
1 1.000 4 5689210 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019
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: rs777307167
rs777307167
WNT10A
1 1.000 2 218890128 missense variant T/C snv 1.2E-05 0.010 1.000 1 2019 2019
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: 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: 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: 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
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: 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