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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2003 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2003 2017
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.060 1.000 6 2013 2019
dbSNP: rs701848
rs701848
PTEN
10 0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33 0.050 1.000 5 2012 2020
dbSNP: rs13042395
rs13042395
SLC52A3
13 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 0.040 0.750 4 2015 2019
dbSNP: rs2014300
rs2014300
RUNX1
5 0.851 0.080 21 34985564 intron variant A/G;T snv 0.75 0.720 1.000 3 2012 2019
dbSNP: rs2735343
rs2735343
PTEN
11 0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39 0.030 1.000 3 2012 2016
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.020 1.000 2 2014 2016
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.020 1.000 2 2014 2018
dbSNP: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.020 1.000 2 2014 2018
dbSNP: rs1834306
rs1834306
MIR100HG ; MIR100 ; MIR10526
9 0.776 0.200 11 122152479 intron variant A/G snv 0.49 0.020 1.000 2 2014 2015
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.020 1.000 2 2014 2015
dbSNP: rs3731239
rs3731239
CDKN2A
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.020 1.000 2 2013 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 2011
dbSNP: rs398652
rs398652 		10 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 0.020 1.000 2 2013 2014
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.020 0.500 2 2013 2014
dbSNP: rs4767364
rs4767364
NAA25
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.020 1.000 2 2013 2018
dbSNP: rs531564
rs531564
LINC00599 ; MIR124-1
27 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 0.020 1.000 2 2014 2018
dbSNP: rs621559
rs621559
EBNA1BP2 ; CFAP57 ; LOC105378685
5 0.827 0.080 1 43179740 intron variant G/A snv 0.18 0.020 1.000 2 2013 2014
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.020 1.000 2 2012 2016
dbSNP: rs10052657
rs10052657
PDE4D
7 0.807 0.120 5 59111944 intron variant C/A snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs1009316
rs1009316
BAX
1 1.000 0.080 19 48955313 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10138277
rs10138277
HEATR5A
1 1.000 0.080 14 31393927 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1033667
rs1033667
CHEK2
1 1.000 0.080 22 28734312 intron variant C/T snv 0.30 0.010 1.000 1 2019 2019