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: rs35822372
rs35822372 		8 0.776 0.160 2 88438931 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs55846652
rs55846652 		8 0.776 0.160 X 69564858 downstream gene variant T/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs917412
rs917412 		8 0.776 0.160 4 108350621 TF binding site variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs2034604
rs2034604
ARHGAP15
8 0.776 0.160 2 143201176 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs121908568
rs121908568
AXIN2
9 0.807 0.160 17 65536495 stop gained G/A snv 0.020 1.000 2 2004 2016
dbSNP: rs730882193
rs730882193
AXIN2
6 0.807 0.200 17 65536472 stop gained C/G;T snv 0.020 1.000 2 2011 2015
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: 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: rs752881223
rs752881223
AXIN2
2 0.925 0.080 17 65558307 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs4498834
rs4498834
CACNA1S
8 0.776 0.160 1 201111170 intron variant T/C snv 0.56 0.700 1.000 1 2018 2018
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: rs1270965996
rs1270965996
COL1A1
1 1.000 0.080 17 50195463 missense variant C/T snv 0.010 1.000 1 2012 2012
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: rs11001553
rs11001553
DKK1 ; PRKG1-AS1
2 0.925 0.080 10 52313141 intron variant C/T snv 0.12 0.020 1.000 2 2012 2014
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs876657641
rs876657641
EDA
1 1.000 0.080 X 70033470 missense variant G/A;C snv 0.700 1.000 2 2009 2014
dbSNP: rs132630321
rs132630321
EDA
4 0.851 0.120 X 70035446 missense variant C/T snv 5.5E-06 9.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs397516654
rs397516654
EDA
2 0.925 0.120 X 70035527 missense variant T/C snv 1.1E-05 3.0E-05 0.700 1.000 1 2010 2010
dbSNP: rs1131692034
rs1131692034
EDA
14 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
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: rs121909637
rs121909637
FGFR1
3 0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs35956082
rs35956082
FOXP1
8 0.776 0.160 3 71414748 intron variant A/C;G snv 0.700 1.000 1 2018 2018
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