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: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.790 0.970 9 2002 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
55 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.730 1.000 3 2007 2019
dbSNP: rs121913343
rs121913343
TP53
20 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 1 2016 2016
dbSNP: rs16969681
rs16969681 		2 0.776 0.080 15 32700910 downstream gene variant C/T snv 0.11 0.710 1.000 1 2014 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.090 0.889 9 2003 2019
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 1998 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 0.030 1.000 3 1998 2005
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2002 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2002 2002
dbSNP: rs1057519995
rs1057519995
TP53
1 0.807 0.240 17 7674200 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10808555
rs10808555
POU5F1B ; CASC8 ; PCAT1
5 0.925 0.080 8 127397266 intron variant G/A snv 0.65 0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2008 2008
dbSNP: rs1414521156
rs1414521156
SLCO6A1
1 5 102459731 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1554774973
rs1554774973
NTRK2
1 1.000 0.120 9 84955504 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1566734
rs1566734
PTPRJ
9 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.010 1.000 1 2008 2008
dbSNP: rs1801166
rs1801166
APC
16 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 1998 1998
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 1.000 1 1997 1997
dbSNP: rs2236225
rs2236225
MTHFD1
51 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2017 2017
dbSNP: rs370662884
rs370662884
CTNNB1
3 0.925 0.080 3 41225816 synonymous variant G/A snv 3.2E-05 4.9E-05 0.010 1.000 1 2003 2003
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs587780424
rs587780424
PPARG
1 3 12433975 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs7158663
rs7158663
MEG3
9 0.827 0.240 14 100853087 non coding transcript exon variant A/G snv 0.42 0.010 < 0.001 1 2016 2016
dbSNP: rs719725
rs719725 		7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs764918809
rs764918809
MDM2
6 0.827 0.160 12 68839337 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016