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: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs35918369
rs35918369
EGFR
4 7 55205613 missense variant C/T snv 3.1E-04 3.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
dbSNP: rs412396
rs412396 		2 20 43657322 downstream gene variant C/G snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs4725431
rs4725431
PRKAG2
2 7 151776093 intron variant T/C snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs4771249
rs4771249
FLT1
2 13 28439277 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs587778966
rs587778966
MLH1
3 0.925 0.160 3 36996698 frameshift variant -/C delins 0.010 1.000 1 2015 2015
dbSNP: rs587780053
rs587780053
PMS2
1 7 5977698 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs63750206
rs63750206
MLH1
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs6964824
rs6964824
PRKAG2
2 7 151654146 intron variant T/C snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs730881913
rs730881913
PMS2
1 7 6004023 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs768824654
rs768824654
MSH2
6 1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772468040
rs772468040
FLT3
2 13 28057413 missense variant C/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs779512948
rs779512948
PMS2
1 7 5989800 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7987649
rs7987649
FLT1
4 0.925 0.080 13 28320278 intron variant A/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2011 2011
dbSNP: rs864622553
rs864622553
PMS2
1 7 5987540 missense variant C/G snv 1.2E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs876660427
rs876660427
APC
4 5 112838608 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2005 2005