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: rs1060501327
rs1060501327
MUTYH
4 0.851 0.080 1 45332251 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs10845498
rs10845498
LRP6
2 0.925 0.080 12 12241640 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs10849605
rs10849605
RAD52
2 0.882 0.080 12 955272 intron variant T/C snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs121913376
rs121913376
BRAF
1 0.925 0.080 7 140781597 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1367644026
rs1367644026
KRT5
5 0.925 0.080 12 52520259 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs201701502
rs201701502
DDR2
5 0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs2233947
rs2233947
PSORS1C1 ; PSORS1C2
6 0.851 0.080 6 31139278 non coding transcript exon variant C/T snv 9.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs2239895
rs2239895
NEAT1 ; LOC107984338
2 0.925 0.080 11 65423976 non coding transcript exon variant G/C snv 3.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2835267
rs2835267
SETD4 ; LOC100133286
6 0.827 0.080 21 36074727 intron variant T/C snv 0.63 0.010 < 0.001 1 2017 2017
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 1.000 1 2017 2017
dbSNP: rs4513061
rs4513061
AGBL1
6 0.807 0.080 15 86428401 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6183
rs6183
GHR
8 0.827 0.080 5 42718990 missense variant C/A snv 2.3E-03 7.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs6488507
rs6488507
LRP6 ; BCL2L14
2 0.925 0.080 12 12203966 intron variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs754400800
rs754400800
NRG1
1 1.000 0.080 8 31640726 missense variant T/C snv 1.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs10118570
rs10118570 		2 0.925 0.120 9 125714185 intergenic variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs6489769
rs6489769
RAD52
4 0.851 0.120 12 963799 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs16901904
rs16901904
PCAT1 ; LOC105375751
7 0.790 0.160 8 127015257 intron variant T/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs710886
rs710886
PCAT1 ; LOC105375751
9 0.763 0.160 8 127014615 intron variant C/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs876658657
rs876658657
MLH1
24 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs11571833
rs11571833
BRCA2
31 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 2 2015 2019
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
11 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.010 < 0.001 1 2019 2019
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs886039484
rs886039484
TP53
23 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2017 2017