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: rs9963878
rs9963878 		1 1.000 0.080 18 51153152 intergenic variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs9953366
rs9953366
SMAD7
1 1.000 0.080 18 48947822 intron variant T/A;C snv 0.72 0.700 1.000 2 2018 2018
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs9923231
rs9923231
VKORC1
6 0.851 0.200 16 31096368 upstream gene variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs9899183
rs9899183
TNFSF12 ; TNFSF12-TNFSF13
3 1.000 0.080 17 7549660 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9872035
rs9872035
PAK2
1 1.000 0.080 3 196767831 intron variant C/T snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs9675122
rs9675122 		1 1.000 0.080 17 7516977 downstream gene variant C/G snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs9580438
rs9580438 		1 1.000 0.080 13 22799267 upstream gene variant T/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs956828658
rs956828658
KCNH2
2 0.925 0.120 7 150958281 missense variant G/A snv 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs951366
rs951366
NUCKS1
4 0.925 0.240 1 205716224 3 prime UTR variant T/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs9506925
rs9506925 		1 1.000 0.080 13 22794804 intergenic variant C/T snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs949078
rs949078 		1 1.000 0.080 11 121758299 intron variant C/T snv 0.60 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: rs9401451
rs9401451
LOC105377979
1 1.000 0.080 6 121778006 intergenic variant G/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs9388451
rs9388451 		3 0.882 0.120 6 125769231 regulatory region variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs883079
rs883079
TBX5
3 1.000 0.080 12 114355435 3 prime UTR variant C/G;T snv 1.8E-05; 0.61 0.710 1.000 5 2016 2018
dbSNP: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 1 2018 2018
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: rs868155
rs868155 		1 1.000 0.080 6 122068760 intergenic variant C/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs8192935
rs8192935
CES1
1 1.000 0.080 16 55827882 splice region variant A/G snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs8181996
rs8181996
LINC01629
1 1.000 0.080 14 76961126 intron variant G/C snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs8180252
rs8180252
LOC107986203
1 1.000 0.080 4 173697712 upstream gene variant G/A snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs8134775
rs8134775 		1 1.000 0.080 21 34219525 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs8088085
rs8088085
MEX3C
1 1.000 0.080 18 51182178 intron variant A/C snv 0.36 0.700 1.000 1 2018 2018