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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2009 2009
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: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.010 1.000 1 2010 2010
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: 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: 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: rs147680216
rs147680216
WNT10A
11 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 0.010 1.000 1 2019 2019
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: 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: 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: rs1487309678
rs1487309678
SEMA3A
5 0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
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: rs397515445
rs397515445
FGFR1
7 0.807 0.280 8 38414263 missense variant T/C 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
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: rs3758249
rs3758249
FOXE1 ; PTCSC2
3 0.882 0.200 9 97851858 intron variant T/C snv 0.63 0.010 1.000 1 2015 2015
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
dbSNP: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.010 1.000 1 2015 2015
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