Source: BEFREE ×
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: 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
103 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
25 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 0.500 2 1999 2005
dbSNP: rs1801155
rs1801155
APC
36 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 0.500 2 1999 2005
dbSNP: rs2273535
rs2273535
AURKA
37 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2003 2005
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.020 1.000 2 2012 2014
dbSNP: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.770 0.875 7 2003 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.770 0.875 7 2003 2017