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: rs35998847
rs35998847 		1 1.000 0.120 6 32699220 intergenic variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs9275245
rs9275245 		2 0.925 0.160 6 32693166 intergenic variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4938573
rs4938573 		4 0.851 0.280 11 118871133 regulatory region variant C/T snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs7755224
rs7755224 		1 1.000 0.120 6 32684540 regulatory region variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2009 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2015 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2015 2016
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2012 2014
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2009 2013
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1159838942
rs1159838942
RAG1
1 1.000 0.120 11 36574757 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2013 2013
dbSNP: rs12717
rs12717
PSMB1 ; TBP
2 0.925 0.160 6 170553212 missense variant G/C snv 0.42 0.38 0.010 1.000 1 2017 2017
dbSNP: rs1308699981
rs1308699981
FCGR3A
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
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 2014 2014
dbSNP: rs1392080411
rs1392080411
KLF2
5 0.827 0.160 19 16325934 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1494555
rs1494555
IL7R
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2007 2007
dbSNP: rs1805329
rs1805329
RAD23B
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2014 2014
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs20575
rs20575
TNFRSF10A
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2228479
rs2228479
MC1R
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2308327
rs2308327
MGMT
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2014 2014