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: 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: 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: 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: 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: 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: 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: rs2872615
rs2872615 		2 0.925 0.120 17 9011376 intergenic variant T/C snv 0.23 0.800 1.000 2 2012 2017
dbSNP: rs4132699
rs4132699
SEMA4D
2 0.925 0.120 9 89421512 intron variant A/C snv 0.43 0.800 1.000 2 2012 2017
dbSNP: rs481931
rs481931
ABCA4
3 0.882 0.120 1 94104460 intron variant G/T snv 0.32 0.800 1.000 2 2010 2017
dbSNP: rs7590268
rs7590268
THADA
1 1.000 0.080 2 43312986 intron variant T/G snv 0.22 0.800 1.000 2 2010 2012
dbSNP: rs9439714
rs9439714
PAX7
3 0.882 0.120 1 18649995 intron variant T/C snv 0.28 0.800 1.000 2 2012 2017
dbSNP: rs10863790
rs10863790 		1 1.000 0.080 1 209814702 regulatory region variant A/C snv 3.9E-02 0.800 1.000 1 2010 2010
dbSNP: rs1258763
rs1258763 		2 0.925 0.080 15 32758222 intergenic variant C/T snv 0.60 0.800 1.000 1 2010 2010
dbSNP: rs1536895
rs1536895 		1 1.000 0.080 9 104031445 intergenic variant A/G snv 9.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs17085106
rs17085106
LINC01899
1 1.000 0.080 18 71771837 intron variant G/T snv 6.3E-02 0.800 1.000 1 2009 2009
dbSNP: rs2294426
rs2294426
ADTRP
1 1.000 0.080 6 11729849 intron variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs9574565
rs9574565 		1 1.000 0.080 13 80094739 intergenic variant T/C snv 0.65 0.800 1.000 1 2010 2010
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: rs4791774
rs4791774
NTN1
4 0.882 0.240 17 9028802 intron variant A/C;G snv 0.710 1.000 2 2015 2019