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: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.020 1.000 2 2016 2019
dbSNP: rs1031583860
rs1031583860
GLYAT
3 0.882 0.080 11 58709815 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1032006770
rs1032006770
EGFR
3 0.882 0.080 7 55160171 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2014 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
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
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs1064795638
rs1064795638
BAP1
7 0.851 0.080 3 52403251 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10951937
rs10951937
SUN3
3 0.882 0.080 7 47992027 intron variant A/C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs11077
rs11077
POLR1C ; XPO5
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2014 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.986 74 2004 2019
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.020 1.000 2 2012 2018
dbSNP: rs1143623
rs1143623
IL1B
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs11674595
rs11674595
IL1R2
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.040 0.750 4 2012 2016
dbSNP: rs1169803481
rs1169803481
EGFR
7 0.807 0.160 7 55198851 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2014 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.986 72 2004 2019
dbSNP: rs1248131654
rs1248131654
RBMS1
4 0.851 0.080 2 160367217 missense variant G/A snv 1.4E-05 0.010 1.000 1 2013 2013