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: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs929783669
rs929783669
STK11
1 1.000 0.080 19 1220674 missense variant T/C snv 0.700 0
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.020 < 0.001 2 2014 2017
dbSNP: rs1003897973
rs1003897973
TRIP10 ; LOC107985302
3 0.882 0.080 19 6746039 missense variant C/G snv 0.010 < 0.001 1 2002 2002
dbSNP: rs1195571
rs1195571 		3 0.882 0.080 12 130739483 intergenic variant T/C snv 0.97 0.010 < 0.001 1 2019 2019
dbSNP: rs1208415127
rs1208415127
RASSF1
6 0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1266828
rs1266828
IL17F
6 0.807 0.120 6 52243264 intron variant G/A snv 0.75 0.010 < 0.001 1 2015 2015
dbSNP: rs180082
rs180082 		3 0.882 0.080 17 69955727 intergenic variant C/G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 < 0.001 1 2017 2017
dbSNP: rs281860374
rs281860374
HLA-B ; HLA-C
3 0.882 0.080 6 31271730 missense variant G/C snv 0.010 < 0.001 1 2002 2002
dbSNP: rs3213176
rs3213176
E2F1
8 0.776 0.120 20 33676869 missense variant C/T snv 1.9E-02; 5.1E-06 1.8E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs402710
rs402710
CLPTM1L
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs56250509
rs56250509
MLH1
10 0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs745950347
rs745950347
DAPK1
3 0.882 0.120 9 87640345 missense variant T/C snv 8.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs746700511
rs746700511
PDXP
4 0.851 0.080 22 37665657 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs773919809
rs773919809
MGMT
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs864622584
rs864622584
APC
1 1.000 0.080 5 112838623 missense variant G/A snv 0.010 < 0.001 1 2005 2005
dbSNP: rs997271472
rs997271472
APC
1 1.000 0.080 5 112838434 missense variant G/A;T snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.050 0.200 5 2012 2017
dbSNP: rs11079454
rs11079454
BRIP1
3 0.882 0.080 17 61679808 3 prime UTR variant T/A;C snv 0.020 0.500 2 2013 2016
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 0.500 2 2017 2019
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.020 0.500 2 2012 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 0.500 2 2011 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 0.500 2 2005 2013
dbSNP: rs2048718
rs2048718
BRIP1
5 0.827 0.120 17 61863458 5 prime UTR variant C/T snv 0.42 0.020 0.500 2 2016 2018