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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.988 83 2003 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.987 79 2003 2020
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 0.667 6 2012 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 0.750 4 2012 2019
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.040 0.750 4 2012 2019
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: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 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: 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: 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: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2060793
rs2060793
CYP2R1
11 0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2072472
rs2072472
IL1R2
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs3783521
rs3783521
IL1A
8 0.807 0.200 2 112786000 upstream gene variant G/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs3917225
rs3917225
IL1R1
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs6013897
rs6013897 		7 0.790 0.200 20 54125940 regulatory region variant T/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs763538721
rs763538721
HIF1A ; HIF1A-AS3
8 0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs78929565
rs78929565
CLOCK
3 0.882 0.080 4 55539035 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.720 1.000 12 1998 2018
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: 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: 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: rs1057519736
rs1057519736
IDH2
13 0.752 0.160 15 90088605 missense variant C/G snv 0.010 1.000 1 2018 2018
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: rs1207011218
rs1207011218
CTLA4
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2018 2018