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: rs779795819
rs779795819
MLH1
2 0.925 0.080 3 37048526 frameshift variant -/ATTG delins 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs8039880
rs8039880
MAP2K1
2 0.925 0.080 15 66468004 intron variant A/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs8086
rs8086
ACSL1
2 0.925 0.080 4 184756267 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs8191754
rs8191754
IGF2R
2 0.925 0.080 6 160027292 missense variant C/G snv 0.13 0.13 0.010 1.000 1 2012 2012
dbSNP: rs876658198
rs876658198
MLH1
2 0.925 0.080 3 37028855 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs8905
rs8905
PRKAR1A ; FAM20A
2 0.925 0.080 17 68531661 3 prime UTR variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs9694958
rs9694958
IKBKB ; LOC105379395
2 0.925 0.080 8 42298528 intron variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1017621656
rs1017621656
TGFB1
3 0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs1057519822
rs1057519822
MAP2K1
3 0.925 0.080 15 66481818 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs11536898
rs11536898
TLR4
3 0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs11986055
rs11986055
IKBKB
3 0.882 0.080 8 42277660 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs121913538
rs121913538
KRAS
3 0.882 0.080 12 25245328 missense variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1380087059
rs1380087059
APC
3 0.882 0.160 5 112837749 missense variant G/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1440032367
rs1440032367
COL11A2
3 0.925 0.080 6 33189169 missense variant G/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs147198552
rs147198552
CXCR4
3 0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs187960998
rs187960998
TRPM1 ; MIR211
3 0.925 0.080 15 31065098 mature miRNA variant C/T snv 1.2E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs2059691
rs2059691
PRKRA ; CHROMR
3 0.882 0.080 2 178437157 intron variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs2189517
rs2189517
RAD51B
3 0.882 0.080 14 68536271 intron variant A/G snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs2304204
rs2304204
IRF3 ; BCL2L12
3 0.882 0.160 19 49665763 5 prime UTR variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs230490
rs230490
LOC105377621
3 0.882 0.080 4 102466262 downstream gene variant G/A snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs352144
rs352144
TLR9
3 0.925 0.080 3 52227452 intron variant T/G snv 3.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs4147542
rs4147542
ADH1B ; ADH1C
3 0.882 0.160 4 99347396 intron variant T/C snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs4562
rs4562
CLDN7 ; ELP5
3 0.925 0.080 17 7260420 missense variant A/G snv 0.65 0.70 0.010 1.000 1 2014 2014
dbSNP: rs4648110
rs4648110
NFKB1 ; LOC105377347
3 0.925 0.080 4 102612664 intron variant T/A snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs587781394
rs587781394
APC
3 0.882 0.160 5 112837812 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2003 2003