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: rs2107425
rs2107425
MRPL23 ; H19
16 0.732 0.280 11 1999845 intron variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs2735971
rs2735971
MRPL23 ; H19
7 0.790 0.240 11 2000419 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 1.000 1 2009 2009
dbSNP: rs2854509
rs2854509
XRCC1
6 0.807 0.160 19 43570445 intron variant T/G snv 0.80 0.010 1.000 1 2015 2015
dbSNP: rs2854744
rs2854744
IGFBP3
20 0.695 0.520 7 45921476 intron variant G/T snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs2976391
rs2976391
PSCA ; JRK
7 0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs3136817
rs3136817
APEX1 ; OSGEP
12 0.732 0.280 14 20456275 intron variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs3213255
rs3213255
XRCC1
3 0.882 0.120 19 43573355 intron variant G/A snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs3213356
rs3213356
XRCC1
3 0.882 0.120 19 43554087 intron variant C/T snv 0.60 0.010 1.000 1 2016 2016
dbSNP: rs3219493
rs3219493
MUTYH
3 0.882 0.120 1 45330597 intron variant G/C snv 0.92 0.93 0.010 1.000 1 2016 2016
dbSNP: rs370681
rs370681
AXIN1
6 0.807 0.200 16 342461 intron variant C/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs3730358
rs3730358
AKT1
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs3731239
rs3731239
CDKN2A
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs3740393
rs3740393
AS3MT ; BORCS7-ASMT
10 0.776 0.280 10 102876898 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3757441
rs3757441
EZH2
12 0.752 0.200 7 148827660 intron variant C/T snv 0.80 0.010 1.000 1 2016 2016
dbSNP: rs3807987
rs3807987
CAV1
17 0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 < 0.001 1 2014 2014
dbSNP: rs4758680
rs4758680
LRRC43
9 0.763 0.320 12 122170805 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4957014
rs4957014
PDCD6 ; AHRR
11 0.752 0.160 5 287899 intron variant T/G snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs4969054
rs4969054
SLC39A11
3 0.882 0.120 17 73016334 intron variant G/C snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs6443624
rs6443624
PIK3CA
8 0.776 0.200 3 179179886 intron variant C/A snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs7003908
rs7003908
PRKDC
16 0.716 0.320 8 47858141 intron variant C/A snv 0.66 0.010 1.000 1 2010 2010
dbSNP: rs710886
rs710886
PCAT1 ; LOC105375751
9 0.763 0.160 8 127014615 intron variant C/T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs7211818
rs7211818
RPTOR
5 0.827 0.200 17 80715103 intron variant A/G snv 0.23 0.010 1.000 1 2009 2009