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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.800 5 2006 2013
dbSNP: rs121909635
rs121909635
FGFR1
6 0.827 0.240 8 38426158 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
FGFR1
7 0.827 0.240 8 38414569 stop gained G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs267606805
rs267606805
FGFR1
5 0.851 0.240 8 38414173 missense variant G/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs267606806
rs267606806
FGFR1
5 0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs7552506
rs7552506
IRF6
2 0.925 0.240 1 209796557 splice region variant G/C snv 0.32 0.32 0.010 1.000 1 2008 2008
dbSNP: rs861019
rs861019
IRF6
2 0.925 0.120 1 209802041 splice region variant A/G snv 0.44 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2009 2009
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 2010 2010
dbSNP: rs306796
rs306796
STOM
1 1.000 0.120 9 121365057 intron variant C/T snv 0.33 0.010 1.000 1 2010 2010
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.010 1.000 1 2010 2010
dbSNP: rs227731
rs227731 		4 0.882 0.120 17 56695877 intergenic variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs368136178
rs368136178
TBX22
1 1.000 0.120 X 80024158 missense variant G/A;T snv 5.5E-06; 8.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs3923086
rs3923086
AXIN2
2 0.925 0.200 17 65553370 intron variant A/C;G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs4752028
rs4752028
SHTN1
6 0.807 0.200 10 117075480 intron variant C/T snv 0.73 0.010 1.000 1 2012 2012
dbSNP: rs522616
rs522616
MMP3
10 0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs7078160
rs7078160
SHTN1
4 0.851 0.120 10 117068049 intron variant G/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs7224837
rs7224837
AXIN2
2 0.925 0.200 17 65532005 intron variant G/A snv 0.89 0.010 1.000 1 2012 2012
dbSNP: rs8179096
rs8179096
TIMP2
4 0.851 0.200 17 78925567 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.040 1.000 4 2013 2017
dbSNP: rs2106416
rs2106416
AMELX ; ARHGAP6
1 1.000 0.120 X 11298622 missense variant C/A;T snv 1.1E-05; 0.19 0.010 1.000 1 2014 2014
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1257891978
rs1257891978
FGF8 ; LOC105378457
1 1.000 0.120 10 101770499 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1269636220
rs1269636220
WDR11
5 0.851 0.280 10 120865109 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1306416169
rs1306416169
NSMF
5 0.851 0.280 9 137453808 missense variant C/T snv 0.010 1.000 1 2015 2015