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: rs16901904
rs16901904
PCAT1 ; LOC105375751
7 0.790 0.160 8 127015257 intron variant T/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs7725218
rs7725218
TERT
17 0.708 0.280 5 1282299 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs6957511
rs6957511
LINC-PINT
1 1.000 0.080 7 130983859 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs75685923
rs75685923
REXO4
1 1.000 0.080 9 133410109 intron variant C/T snv 2.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs467095
rs467095
CLPTM1L
2 0.925 0.160 5 1336106 intron variant T/C snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs1108581
rs1108581
DBH
3 1.000 0.080 9 133640119 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs121913376
rs121913376
BRAF
2 0.925 0.080 7 140781597 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913351
rs121913351
BRAF
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs111960002
rs111960002
ZNF623
1 1.000 0.080 8 143640250 intron variant T/C snv 2.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs10174077
rs10174077
NEB
1 1.000 0.080 2 151625198 intron variant C/T snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs1057519896
rs1057519896
FBXW7
12 0.742 0.320 4 152326136 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs149680468
rs149680468
FBXW7
15 0.742 0.320 4 152326137 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs866987936
rs866987936
FBXW7
12 0.752 0.240 4 152326214 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs747241612
rs747241612
FBXW7
12 0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519895
rs1057519895
FBXW7
17 0.724 0.240 4 152328232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs867384286
rs867384286
FBXW7
14 0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 0.700 1.000 1 2016 2016
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs112233273
rs112233273 		1 1.000 0.080 1 160908636 intergenic variant G/A snv 4.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs34192549
rs34192549
EPHA2
1 1.000 0.080 1 16137994 missense variant C/G;T snv 2.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs144594252
rs144594252
DDR2
3 0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 0.700 1.000 1 2011 2011