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: rs2665390
rs2665390
TIPARP ; LOC107986148
8 0.776 0.160 3 156679960 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2016 2016
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: rs7372209
rs7372209
CTDSPL ; MIR26A1
7 0.807 0.160 3 37969217 intron variant T/C snv 0.77 0.010 1.000 1 2014 2014
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs13117307
rs13117307
EXOC1
6 0.827 0.080 4 55885574 intron variant C/T snv 0.21 0.730 1.000 4 2013 2017
dbSNP: rs3775290
rs3775290
TLR3
15 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 0.020 1.000 2 2011 2016
dbSNP: rs1049216
rs1049216
CASP3
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs12646659
rs12646659
VEGFC
3 0.882 0.080 4 176764117 intron variant C/G snv 5.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs300574
rs300574
SPRY1
3 0.882 0.080 4 123402583 3 prime UTR variant T/C snv 0.58 0.54 0.010 1.000 1 2016 2016
dbSNP: rs4604006
rs4604006
VEGFC ; LOC105377555
3 0.882 0.080 4 176687621 intron variant T/C snv 0.58 0.010 1.000 1 2019 2019
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: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2011 2019
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.030 1.000 3 2010 2017
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: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2009 2012
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2012 2012
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2017 2017
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2009 2009
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: 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: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.060 1.000 6 2015 2017
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.050 0.800 5 2012 2018