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: rs121909218
rs121909218
PTEN
12 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121913292
rs121913292
PTEN
1 1.000 0.080 10 87933148 frameshift variant G/- del 0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
KRAS
135 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1239905891
rs1239905891
IGF1
3 0.925 0.080 12 102475786 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1302103336
rs1302103336
CHEK1
12 0.776 0.120 11 125637491 missense variant T/C snv 8.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs13283662
rs13283662
UHRF2
4 0.925 0.080 9 6428530 intron variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs138213197
rs138213197
HOXB13
19 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs1389945622
rs1389945622
MLH1 ; EPM2AIP1
1 3 36993560 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1444192401
rs1444192401
KRT7
4 0.882 0.120 12 52235347 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs146312682
rs146312682
LIMD1
1 3 45595642 missense variant A/C snv 8.6E-04 7.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs1675126
rs1675126
INCENP
3 0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88 0.010 1.000 1 2015 2015
dbSNP: rs1704754
rs1704754
HSD17B7
1 1 162790761 5 prime UTR variant C/T snv 0.70 0.62 0.010 1.000 1 2014 2014
dbSNP: rs17506395
rs17506395
TP63
3 0.925 0.080 3 189803530 intron variant T/G snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs1800470
rs1800470
TGFB1
106 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs1801725
rs1801725
CASR
37 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2017 2017
dbSNP: rs1972820
rs1972820
ERBB4
3 0.925 0.080 2 211378697 3 prime UTR variant G/A snv 0.63 0.010 < 0.001 1 2018 2018
dbSNP: rs201498575
rs201498575
EGFR
1 7 55165359 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2273535
rs2273535
AURKA
37 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2015 2015
dbSNP: rs2306969
rs2306969
FUT3 ; LOC101928844
4 0.925 0.040 19 5851790 intron variant A/G snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs2787486
rs2787486
STXBP4
3 0.925 0.080 17 55132413 intron variant A/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs35490896
rs35490896
CLSPN
3 0.925 0.080 1 35736984 missense variant G/A snv 5.5E-02 6.5E-02 0.010 < 0.001 1 2008 2008