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: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1051753269
rs1051753269
EGFR
7 0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs10519097
rs10519097
RORA
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.050 1.000 5 2006 2019
dbSNP: rs1056503
rs1056503
XRCC4
4 0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1057519698
rs1057519698
ALK
8 0.827 0.120 2 29222347 missense variant A/G;T snv 0.030 1.000 3 2014 2016
dbSNP: rs1057519729
rs1057519729
MAP2K1
6 0.827 0.080 15 66435113 missense variant A/C snv 0.720 1.000 4 1995 2016
dbSNP: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.040 1.000 4 2014 2019
dbSNP: rs1057519784
rs1057519784
ALK
7 0.827 0.080 2 29220765 missense variant G/T snv 0.020 1.000 2 2014 2017
dbSNP: rs1057519788
rs1057519788
ROS1
6 0.925 0.080 6 117317184 missense variant C/T snv 0.030 1.000 3 2015 2019
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.800 0.983 176 2004 2020
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.800 0.983 176 2004 2020
dbSNP: rs1057519858
rs1057519858
STK11
1 1.000 0.080 19 1220495 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519861
rs1057519861
EGFR ; EGFR-AS1
15 0.776 0.080 7 55181398 missense variant T/A snv 0.100 0.938 16 2015 2020
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1057523347
rs1057523347
TP53
2 0.925 0.160 17 7673789 stop gained A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1059292
rs1059292
SLC3A2 ; SNORD29 ; SNORD30 ; SNORD28 ; SNORD27 ; SNORD26 ; SNORD25 ; SNHG1
1 1.000 0.080 11 62855579 non coding transcript exon variant T/C snv 7.2E-02 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1060501205
rs1060501205
TP53
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 0.010 1.000 1 2011 2011
dbSNP: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1061302
rs1061302
NBN
5 0.827 0.160 8 89946194 synonymous variant T/C snv 0.35 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1061624
rs1061624
TNFRSF1B
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.020 1.000 2 2014 2019
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.020 1.000 2 2008 2016