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: rs1060499539
rs1060499539
ENAM
2 0.925 0.080 4 70631707 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1085307111
rs1085307111
ACP4 ; LOC105372439
3 0.882 0.080 19 50793784 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs546603773
rs546603773
ACP4 ; LOC105372439
3 0.882 0.080 19 50791780 missense variant C/A;G;T snv 8.3E-06; 8.3E-06; 5.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs556734208
rs556734208
KLK4
2 0.925 0.080 19 50907067 frameshift variant A/- del 2.1E-04 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs1057518764
rs1057518764
DLX3
6 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1432600424
rs1432600424
CNNM4
3 0.882 0.120 2 96799118 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1553275070
rs1553275070
LAMB3
2 0.925 0.080 1 209615408 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1553275195
rs1553275195
LAMB3
2 0.925 0.080 1 209616513 stop gained C/A snv 0.700 0
dbSNP: rs1555617226
rs1555617226
DLX3
4 0.851 0.160 17 49993440 missense variant C/A snv 0.700 0
dbSNP: rs770804941
rs770804941
WDR72
1 1.000 0.080 15 53733062 stop gained G/A;C snv 2.4E-05; 3.6E-05 0.700 0
dbSNP: rs104894737
rs104894737
AMELX ; ARHGAP6
2 0.925 0.080 X 11294790 start lost T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs104894738
rs104894738
AMELX ; ARHGAP6
3 0.882 0.080 X 11294799 missense variant G/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1171002040
rs1171002040
FAM83H
1 1.000 0.080 8 143730578 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1270453185
rs1270453185
ACP4 ; LOC105372439
1 1.000 0.080 19 50795064 missense variant C/G snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs137854435
rs137854435
FAM83H
2 0.925 0.080 8 143728488 stop gained G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs137854436
rs137854436
FAM83H
2 0.925 0.080 8 143728269 stop gained G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs140967203
rs140967203
ITGB6
1 1.000 0.080 2 160142065 missense variant C/T snv 6.7E-05 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs144411158
rs144411158
FAM20A
2 0.925 0.200 17 68555742 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs148040455
rs148040455
MMP25
1 1.000 0.080 16 3050532 missense variant C/A;G;T snv 5.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs587777516
rs587777516
MMP20 ; LOC101928477
2 0.925 0.080 11 102625218 stop gained C/G;T snv 2.0E-05; 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs61730849
rs61730849
MMP20 ; LOC101928477
2 0.925 0.080 11 102611889 missense variant G/A snv 1.5E-03 1.8E-03 0.010 1.000 1 2013 2013
dbSNP: rs61737764
rs61737764
ITGB6
1 1.000 0.080 2 160137782 missense variant C/T snv 8.0E-03 3.9E-03 0.010 1.000 1 2016 2016
dbSNP: rs747301994
rs747301994
COL17A1
1 1.000 0.080 10 104053097 stop gained G/A;T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs779692470
rs779692470
ITGB6
1 1.000 0.080 2 160172592 missense variant C/T snv 2.8E-05 0.010 1.000 1 2016 2016