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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.979 96 2004 2019
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.860 1.000 10 2009 2016
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.750 1.000 6 2009 2015
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.850 1.000 6 2009 2015
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.840 0.800 5 2012 2017
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.050 1.000 5 2012 2017
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.040 1.000 4 2016 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.040 0.750 4 2013 2017
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.720 1.000 3 2016 2019
dbSNP: rs10759944
rs10759944
PTCSC2
4 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.700 1.000 3 2009 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2014 2015
dbSNP: rs2439302
rs2439302
NRG1
9 0.776 0.200 8 32574851 intron variant G/C snv 0.54 0.830 1.000 3 2012 2015
dbSNP: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.710 1.000 3 2010 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 0.667 3 2014 2015
dbSNP: rs1443434
rs1443434
FOXE1
4 0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63 0.710 1.000 2 2009 2015
dbSNP: rs1588635
rs1588635
PTCSC2
2 1.000 0.080 9 97775520 intron variant A/C snv 0.72 0.800 1.000 2 2010 2017
dbSNP: rs71369530
rs71369530
FOXE1 ; PTCSC2
4 0.851 0.080 9 97854419 inframe insertion GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC delins 0.68 0.020 1.000 2 2014 2014
dbSNP: rs907580
rs907580 		4 0.851 0.080 9 97860315 downstream gene variant T/A;C;G snv 0.710 1.000 2 2009 2015
dbSNP: rs925487
rs925487 		2 0.925 0.080 9 97874116 regulatory region variant C/A;T snv 0.700 1.000 2 2009 2013
dbSNP: rs925489
rs925489
PTCSC2
6 0.882 0.080 9 97784318 intron variant C/T snv 0.71 0.800 1.000 2 2010 2018
dbSNP: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.820 1.000 2 2012 2013
dbSNP: rs10122541
rs10122541 		1 1.000 0.080 9 97865986 intergenic variant G/A snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs1031583860
rs1031583860
GLYAT
3 0.882 0.080 11 58709815 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016