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: 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: 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: rs10753933
rs10753933
PPFIA4
1 1.000 0.080 1 203057086 intron variant T/G snv 0.47 0.700 1.000 2 2018 2018
dbSNP: rs2834618
rs2834618
LINC01426
1 1.000 0.080 21 34746814 intron variant T/G snv 9.5E-02 0.700 1.000 2 2018 2018
dbSNP: rs4642101
rs4642101
CAND2
3 1.000 0.080 3 12800724 intron variant T/G snv 0.63 0.020 1.000 2 2016 2018
dbSNP: rs55985730
rs55985730
OPN1SW
1 1.000 0.080 7 128776990 upstream gene variant T/G snv 4.1E-02 0.700 1.000 2 2018 2018
dbSNP: rs10428132
rs10428132
SCN10A
2 0.925 0.120 3 38736063 intron variant T/G snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs2291437
rs2291437
SOX5
1 1.000 0.080 12 24562114 intron variant T/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs3789967
rs3789967
CCDC92
1 1.000 0.080 12 123962792 non coding transcript exon variant T/G snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs587777560
rs587777560
SCN4B
3 0.882 0.120 11 118141304 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs61757261
rs61757261
CLCN6 ; NPPA ; NPPA-AS1
2 0.925 0.080 1 11847373 missense variant T/G snv 2.0E-03 1.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs876727
rs876727
ZFHX3
1 1.000 0.080 16 73033862 intron variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs9481842
rs9481842
CEP85L
1 1.000 0.080 6 118653635 intron variant T/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs7373065
rs7373065 		1 1.000 0.080 3 38668824 intergenic variant T/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs12664873
rs12664873 		1 1.000 0.080 6 122142045 intergenic variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs12908437
rs12908437
IGF1R
5 0.882 0.200 15 98744146 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13143308
rs13143308 		4 0.882 0.120 4 110793263 upstream gene variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs16971436
rs16971436
ZFHX3
4 0.851 0.080 16 72958864 missense variant T/C;G snv 1.2E-05; 7.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs3960788
rs3960788
SLC9B1
1 1.000 0.080 4 102994461 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4489968
rs4489968 		2 1.000 0.080 15 73373165 upstream gene variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs7096385
rs7096385
SIRT1
1 1.000 0.080 10 67905124 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.100 1.000 11 2006 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: 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: rs3853445
rs3853445 		1 1.000 0.080 4 110840331 regulatory region variant T/C snv 0.22 0.710 1.000 4 2011 2018