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: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2020 2020
dbSNP: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519861
rs1057519861
EGFR ; EGFR-AS1
15 0.776 0.080 7 55181398 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1238684646
rs1238684646
DICER1
2 14 95090640 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs934945
rs934945
PER2
10 0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 0.010 1.000 1 2018 2018
dbSNP: rs2853669
rs2853669
TERT
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs80359030
rs80359030
BRCA2
6 0.851 13 32363189 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs886040738
rs886040738
BRCA2
7 0.851 13 32363188 frameshift variant G/- delins 0.010 1.000 1 2016 2016
dbSNP: rs121913409
rs121913409
CTNNB1
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs121913238
rs121913238
KRAS
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs28933406
rs28933406
HRAS ; LRRC56
27 0.667 0.480 11 533875 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2013
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2012 2013
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2012 2012