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: rs2227869
rs2227869
ERCC5 ; BIVM-ERCC5
9 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2014 2016
dbSNP: rs4915076
rs4915076
VAV3
3 0.882 0.080 1 107816883 intron variant T/C snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 < 0.001 1 2015 2015
dbSNP: rs9400239
rs9400239
FOXO3
3 1.000 6 108656460 5 prime UTR variant T/C snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs4946936
rs4946936
FOXO3
8 0.790 0.160 6 108682118 3 prime UTR variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs34677591
rs34677591
SDHD ; TIMM8B
12 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 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: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2014 2014
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2014 2014
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs56391007
rs56391007
MET
16 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs10808556
rs10808556
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
2 0.925 0.080 8 127400902 non coding transcript exon variant C/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 < 0.001 1 2011 2011
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.020 0.500 2 2011 2013
dbSNP: rs2480258
rs2480258
CYP2E1
1 1.000 10 133538596 intron variant T/C snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs16962916
rs16962916 		2 0.925 16 13806476 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs371428527
rs371428527
PIK3CB
2 0.925 3 138737869 missense variant T/C;G snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs3136166
rs3136166
ERCC4
2 0.925 16 13938236 intron variant T/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 10 2008 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 10 2008 2019
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2013 2013