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: rs1295445617
rs1295445617
MSH2
1 1.000 0.040 2 47403398 synonymous variant G/A;C;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs1327891278
rs1327891278
LYN
1 1.000 0.040 8 55950487 missense variant C/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
12 0.732 0.280 9 22083405 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1340420
rs1340420
TNKS2
3 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1389500636
rs1389500636
EGFR
6 0.827 0.080 7 55156796 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1412115
rs1412115 		2 0.925 0.080 10 33799125 regulatory region variant T/C snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs144594252
rs144594252
DDR2
2 0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs1454328441
rs1454328441
MUC1
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1533767
rs1533767
WNT11
5 0.851 0.120 11 76194756 splice region variant G/A snv 0.27 0.23 0.010 1.000 1 2019 2019
dbSNP: rs1607237
rs1607237
PIK3CA
1 1.000 0.040 3 179232509 intron variant C/T snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1670661
rs1670661
NELL1
2 1.000 0.040 11 21209124 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs16891982
rs16891982
SLC45A2
6 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.710 1.000 1 2009 2016
dbSNP: rs1695
rs1695
GSTP1
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2019 2019
dbSNP: rs17568
rs17568
TNFRSF4
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
30 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 1.000 1 2008 2008
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
dbSNP: rs1770474
rs1770474
TNKS2
3 0.925 0.080 10 91833770 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1799930
rs1799930
NAT2
17 0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1800407
rs1800407
OCA2
6 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.710 1.000 1 2009 2019
dbSNP: rs1800625
rs1800625
AGER ; PBX2
35 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1800975
rs1800975
XPA
19 0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 0.010 1.000 1 2011 2011
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 2004 2004