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: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2007 2007
dbSNP: rs7201637
rs7201637
HSD17B2
2 1.000 16 82081670 intron variant T/A snv 9.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs74315409
rs74315409
PRNP
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs774994509
rs774994509
SOD1
5 0.851 0.080 21 31667296 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs775040765
rs775040765
BRAF
2 1.000 7 140800366 missense variant T/C snv 8.0E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs877610
rs877610
TRPV1
3 1.000 17 3572196 synonymous variant C/T snv 4.6E-02 7.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs61731956
rs61731956
MADD ; NR1H3
3 0.925 0.080 11 47268596 missense variant G/A snv 2.2E-04 2.6E-04 0.020 1.000 2 2016 2016
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2011 2019
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2011 2019
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2011 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.050 1.000 5 2006 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2006 2018
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 1.000 11 2009 2019