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: rs10964862
rs10964862 		1 9 21151554 intergenic variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs11121704
rs11121704
MTOR
3 1 11233902 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11246050
rs11246050
NLRP6
2 1.000 0.080 11 284257 synonymous variant G/A;C snv 0.16; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1131691036
rs1131691036
TP53
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 1.000 1 2019 2019
dbSNP: rs1131692237
rs1131692237
ERBB2 ; MIR4728
2 1.000 0.040 17 39725161 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 < 0.001 1 2008 2008
dbSNP: rs1137282
rs1137282
KRAS
5 0.851 0.120 12 25209843 missense variant A/G;T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs11547328
rs11547328
CDK4
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs115785973
rs115785973
SOCS3
3 0.925 0.080 17 78357871 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1172398253
rs1172398253
CCN1
4 0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs11788747
rs11788747
RECK
6 0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34 0.010 1.000 1 2012 2012
dbSNP: rs1196644309
rs1196644309
TXNIP
3 1.000 0.080 1 145995155 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1207692596
rs1207692596
MPO
3 0.925 0.080 17 58280438 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs12190287
rs12190287
TCF21
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121909222
rs121909222
PTEN
13 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913331
rs121913331
APC
11 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913492
rs121913492
GNAQ
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.010 1.000 1 2009 2009