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: 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: 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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2009 2009
dbSNP: rs397515445
rs397515445
FGFR1
7 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs534391501
rs534391501
GRHL3
2 0.925 0.200 1 24334661 missense variant G/A snv 3.1E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs757422353
rs757422353
CDH1
3 0.882 0.200 16 68823432 missense variant C/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs770182236
rs770182236
NME1 ; NME1-NME2
2 0.925 0.200 17 51155707 missense variant G/A snv 6.4E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs772267475
rs772267475
NHLH1
1 1.000 0.120 1 160370811 missense variant G/A;C snv 8.6E-06 0.010 1.000 1 2019 2019
dbSNP: rs876658146
rs876658146
CDH1
3 0.882 0.200 16 68815743 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs402710
rs402710
CLPTM1L
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 1.000 1 2017 2017
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 1.000 1 2020 2020
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: 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: 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: rs4460498
rs4460498 		2 0.925 0.120 9 97858130 downstream gene variant T/C snv 0.63 0.010 1.000 1 2015 2015