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: rs12543318
rs12543318 		4 0.882 0.120 8 87856112 intergenic variant C/A snv 0.68 0.810 1.000 5 2010 2018
dbSNP: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.740 1.000 5 2004 2015
dbSNP: rs227731
rs227731 		4 0.882 0.120 17 56695877 intergenic variant T/A;G snv 0.800 1.000 5 2010 2018
dbSNP: rs7078160
rs7078160
SHTN1
4 0.851 0.120 10 117068049 intron variant G/A snv 0.19 0.800 1.000 5 2010 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 1998 2019
dbSNP: rs13041247
rs13041247
LOC102724968
5 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.810 1.000 4 2010 2019
dbSNP: rs7017252
rs7017252
CCDC26
2 0.925 0.120 8 128938598 intron variant C/T snv 0.32 0.800 1.000 4 2009 2017
dbSNP: rs987525
rs987525
CCDC26
7 0.807 0.160 8 128933908 intron variant C/A snv 0.31 0.800 1.000 4 2009 2012
dbSNP: rs12546523
rs12546523
CCDC26
1 1.000 0.080 8 128973864 intron variant G/A snv 0.49 0.700 1.000 3 2009 2012
dbSNP: rs12547241
rs12547241
CCDC26
1 1.000 0.080 8 128940263 intron variant G/A snv 0.38 0.700 1.000 3 2009 2012
dbSNP: rs1873147
rs1873147 		2 0.925 0.120 15 63020433 regulatory region variant G/A snv 0.66 0.800 1.000 3 2010 2018
dbSNP: rs2064163
rs2064163 		2 0.925 0.120 1 209875474 regulatory region variant G/T snv 0.30 0.800 1.000 3 2010 2017
dbSNP: rs6072081
rs6072081
LOC102724968
4 0.851 0.120 20 40632414 intergenic variant A/G snv 0.49 0.800 1.000 3 2010 2017
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.030 1.000 3 2010 2012
dbSNP: rs742071
rs742071
PAX7
2 0.925 0.120 1 18653380 intron variant G/T snv 0.39 0.800 1.000 3 2010 2017
dbSNP: rs8001641
rs8001641
LOC105370275
2 0.925 0.120 13 80118676 non coding transcript exon variant G/A snv 0.37 0.800 1.000 3 2010 2018
dbSNP: rs882083
rs882083
CCDC26
1 1.000 0.080 8 128970510 intron variant C/T snv 0.41 0.700 1.000 3 2009 2012
dbSNP: rs10779526
rs10779526 		1 1.000 0.080 1 210178851 intergenic variant T/A;C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs11696257
rs11696257
LOC102724968
3 0.882 0.240 20 40642176 regulatory region variant C/T snv 0.36 0.700 1.000 2 2010 2012
dbSNP: rs11787407
rs11787407
CCDC26
1 1.000 0.080 8 128973194 intron variant A/G snv 0.48 0.700 1.000 2 2010 2012
dbSNP: rs11841646
rs11841646 		3 0.882 0.120 13 80105167 intergenic variant T/A;G snv 0.42 0.800 1.000 2 2012 2017
dbSNP: rs12060567
rs12060567 		1 1.000 0.080 1 210197245 intergenic variant G/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs12094311
rs12094311 		1 1.000 0.080 1 210195791 intergenic variant A/G snv 0.16 0.700 1.000 2 2010 2012
dbSNP: rs1215465
rs1215465
LOC105370275
1 1.000 0.080 13 80117217 non coding transcript exon variant C/T snv 0.49 0.700 1.000 2 2010 2012
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.020 0.500 2 2011 2013