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: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.900 0.971 35 2007 2019
dbSNP: rs10033464
rs10033464 		8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.900 0.933 15 2007 2019
dbSNP: rs2106261
rs2106261
ZFHX3
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.900 0.929 14 2009 2019
dbSNP: rs3807989
rs3807989
CAV1
2 1.000 0.080 7 116546187 intron variant A/G snv 0.53 0.870 0.875 8 2012 2019
dbSNP: rs13376333
rs13376333
KCNN3
2 0.925 0.080 1 154841877 intron variant C/T snv 0.28 0.870 1.000 7 2010 2015
dbSNP: rs7193343
rs7193343
ZFHX3
3 0.882 0.120 16 72995261 intron variant T/A;C snv 0.870 0.857 7 2009 2019
dbSNP: rs6817105
rs6817105 		3 0.882 0.080 4 110784612 intergenic variant T/C snv 0.19 0.840 1.000 6 2012 2018
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.050 1.000 5 2003 2018
dbSNP: rs6584555
rs6584555
NEURL1
1 1.000 0.080 10 103539854 intron variant T/C snv 0.27 0.740 0.800 5 2016 2019
dbSNP: rs6843082
rs6843082 		3 0.925 0.120 4 110796911 non coding transcript exon variant G/A snv 0.71 0.810 1.000 5 2010 2018
dbSNP: rs11773845
rs11773845
CAV1
4 0.925 0.120 7 116551247 intron variant C/A snv 0.53 0.710 1.000 4 2017 2018
dbSNP: rs35176054
rs35176054
SH3PXD2A
1 1.000 0.080 10 103720629 intron variant T/A snv 0.11 0.700 1.000 4 2017 2018
dbSNP: rs3825214
rs3825214
TBX5
8 0.851 0.080 12 114357638 intron variant G/A snv 0.77 0.730 1.000 4 2012 2017
dbSNP: rs3853445
rs3853445 		1 1.000 0.080 4 110840331 regulatory region variant T/C snv 0.22 0.710 1.000 4 2011 2018
dbSNP: rs10821415
rs10821415
AOPEP
1 1.000 0.080 9 94951177 intron variant C/A snv 0.34 0.810 1.000 3 2012 2018
dbSNP: rs10824026
rs10824026
SYNPO2L ; LOC105378360
1 1.000 0.080 10 73661450 intron variant G/A snv 0.68 0.810 1.000 3 2012 2017
dbSNP: rs11047543
rs11047543
LOC105369698
2 1.000 0.080 12 24635405 intergenic variant G/A snv 0.12 0.720 1.000 3 2012 2019
dbSNP: rs11264280
rs11264280 		1 1.000 0.080 1 154890476 intergenic variant C/T snv 0.24 0.700 1.000 3 2017 2018
dbSNP: rs11598047
rs11598047
NEURL1
1 1.000 0.080 10 103582915 non coding transcript exon variant A/G snv 0.16 0.700 1.000 3 2017 2018
dbSNP: rs1906617
rs1906617 		1 1.000 0.080 4 110774658 intergenic variant A/G snv 0.17 0.030 1.000 3 2017 2017
dbSNP: rs199472708
rs199472708
KCNQ1
4 0.882 0.080 11 2572015 missense variant G/A snv 0.030 1.000 3 2014 2018
dbSNP: rs2220427
rs2220427 		1 1.000 0.080 4 110793733 upstream gene variant C/T snv 0.15 0.800 1.000 3 2007 2017
dbSNP: rs2540949
rs2540949
CEP68 ; LOC107984063
1 1.000 0.080 2 65057097 intron variant A/T snv 0.39 0.700 1.000 3 2017 2018
dbSNP: rs2595104
rs2595104
PITX2
1 1.000 0.080 4 110631977 intron variant T/G snv 0.62 0.720 1.000 3 2016 2019
dbSNP: rs2634073
rs2634073 		1 1.000 0.080 4 110744627 intergenic variant T/C snv 0.70 0.710 1.000 3 2007 2015