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: rs11466782
rs11466782
ADAM19
3 0.925 0.120 5 157494947 intron variant A/G snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.040 1.000 4 2013 2019
dbSNP: rs2071286
rs2071286
NOTCH4
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs2395185
rs2395185
HLA-DRB9
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs2621416
rs2621416 		4 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 0.800 1.000 1 2013 2013
dbSNP: rs2647045
rs2647045 		1 6 32700323 TF binding site variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs3099844
rs3099844
MICB-DT
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs4530903
rs4530903 		1 6 32614112 intergenic variant C/T snv 0.10 0.800 1.000 1 2013 2013
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2006 2006
dbSNP: rs707824
rs707824
LOC101928354
3 0.925 0.120 6 14636732 intergenic variant T/C snv 0.74 0.810 1.000 1 2013 2013
dbSNP: rs9268853
rs9268853
HLA-DRB9
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs9461776
rs9461776
HLA-DRB1
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.720 1.000 4 2012 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2015
dbSNP: rs1057519833
rs1057519833
EZH2
3 0.925 0.120 7 148809375 missense variant G/C snv 0.710 1.000 2 2012 2012
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2013 2015
dbSNP: rs267601395
rs267601395
EZH2
7 0.925 0.160 7 148811636 missense variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
dbSNP: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 0
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 0
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2006 2006
dbSNP: rs273429
rs273429
LOC105375763
1 8 131467654 intergenic variant C/T snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs1800975
rs1800975
XPA
19 0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 0.010 < 0.001 1 2013 2013