Source: ALL
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: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1057517558
rs1057517558
APC
3 0.882 0.120 5 112839549 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs13306747
rs13306747
PPARG
6 0.807 0.200 3 12416775 synonymous variant C/A;G;T snv 8.0E-06; 4.2E-03; 7.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1333957805
rs1333957805
CXCR4
1 1.000 0.040 2 136115639 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs139209450
rs139209450
AXIN2
1 1.000 0.040 17 65535650 missense variant G/A snv 1.0E-03 3.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs1400239417
rs1400239417
ALK
4 0.882 0.040 2 29220756 missense variant T/A;G snv 4.0E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs143277125
rs143277125
PMS2
6 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2011 2011
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 2001 2001
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs3734254
rs3734254
PPARD
14 0.752 0.240 6 35427233 3 prime UTR variant C/T snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs387906238
rs387906238
APC
2 0.925 0.120 5 112819224 frameshift variant AA/- del 0.010 1.000 1 2007 2007
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs540045689
rs540045689
PTCH1
1 1.000 0.040 9 95508351 missense variant G/C snv 7.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs6008197
rs6008197
PPARA
3 0.882 0.040 22 46224519 intron variant G/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs63750451
rs63750451
PMS2
7 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs749846538
rs749846538
AXIN2
1 1.000 0.040 17 65537814 missense variant C/T snv 6.7E-05 4.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs755103500
rs755103500
PTCH1
4 0.851 0.160 9 95516820 start lost T/C;G snv 8.4E-06; 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs765602971
rs765602971
NBN
3 0.882 0.040 8 89970503 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs766905791
rs766905791
PTCH1
4 0.851 0.160 9 95485815 start lost T/C snv 1.2E-05 0.010 1.000 1 2009 2009