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: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.030 1.000 3 2009 2019
dbSNP: rs41268753
rs41268753
GRHL3
3 0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02 0.030 0.667 3 2016 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 2014
dbSNP: rs2013162
rs2013162
IRF6
5 0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs2235375
rs2235375
IRF6
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs2486668
rs2486668
GRHL3
6 0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17 0.010 < 0.001 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs545809
rs545809
GRHL3 ; STPG1
3 0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26 0.010 < 0.001 1 2016 2016
dbSNP: rs560426
rs560426
ABCA4
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.010 < 0.001 1 2010 2010
dbSNP: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs11466285
rs11466285
TGFA
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs146753226
rs146753226
SIX2
3 0.882 0.200 2 45006255 missense variant C/T snv 1.1E-04 4.0E-04 0.010 1.000 1 2020 2020
dbSNP: rs17010021
rs17010021
LOXL3
3 0.882 0.200 2 74534412 missense variant T/A snv 8.2E-02 4.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs201002930
rs201002930
WNT10A
6 0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2166975
rs2166975
TGFA
5 0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23 0.010 1.000 1 2007 2007
dbSNP: rs3771523
rs3771523
TGFA
5 0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs6757845
rs6757845
ZNF385B
4 0.851 0.200 2 179449268 intron variant T/C snv 0.66 0.010 1.000 1 2011 2011
dbSNP: rs1553547838
rs1553547838
SATB2
4 0.925 0.280 2 199328709 stop gained G/A snv 0.700 0
dbSNP: rs104893810
rs104893810
TGFBR2
7 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs7650466
rs7650466
EPHA3
7 0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs797044484
rs797044484
TP63
10 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
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 2018 2018
dbSNP: rs197204
rs197204
MCUB
4 0.851 0.200 4 109576918 intron variant C/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2018 2018