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: rs1057518960
rs1057518960
GJA1
7 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs1558027212
rs1558027212
TMCO1
7 0.827 0.320 1 165728096 frameshift variant GC/- del 0.700 0
dbSNP: rs587783446
rs587783446
CHD7
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs3775261
rs3775261
MSX1
2 1.000 0.080 4 4862018 intron variant C/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2012 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
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 0.020 0.500 2 2015 2018
dbSNP: rs560426
rs560426
ABCA4
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.710 0.500 2 2010 2012
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: 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: 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