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: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.020 1.000 2 2013 2014
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2006 2006
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2017 2017
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2012 2017
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2012 2015
dbSNP: rs1799796
rs1799796
KLC1 ; XRCC3
7 0.790 0.240 14 103699590 intron variant T/A;C snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs200182588
rs200182588
SMC2 ; SMC2-AS1
6 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs156113
rs156113 		2 0.925 0.080 6 104369868 intergenic variant A/T snv 0.96 0.010 1.000 1 2012 2012
dbSNP: rs2494732
rs2494732
AKT1
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.010 1.000 1 2017 2017
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 2017 2017
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs636291
rs636291
PEX14
2 0.925 0.080 1 10496040 intron variant G/A snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.720 0.667 3 2009 2014
dbSNP: rs1221877686
rs1221877686
TET2 ; TET2-AS1
2 0.925 0.080 4 105234193 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs12315175
rs12315175 		2 0.925 0.080 12 107105494 intron variant T/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs817826
rs817826 		2 0.925 0.080 9 107394019 intergenic variant C/T snv 0.81 0.710 1.000 1 2012 2012
dbSNP: rs4988483
rs4988483
SSTR5 ; SSTR5-AS1
11 0.752 0.240 16 1079010 missense variant C/A snv 3.7E-02 3.7E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs197056
rs197056
SSTR5
2 0.925 0.080 16 1081695 upstream gene variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs197057
rs197057 		2 0.925 0.080 16 1082015 upstream gene variant C/G snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs768362387
rs768362387
ATM
5 0.851 0.360 11 108253846 stop gained C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs758081262
rs758081262
ATM
4 0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.030 0.667 3 2004 2009
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2016 2016
dbSNP: rs2278911
rs2278911
CIP2A
2 0.925 0.080 3 108579413 missense variant C/T snv 0.16 0.12 0.010 1.000 1 2018 2018
dbSNP: rs2273669
rs2273669
ARMC2
2 0.925 0.080 6 108963986 intron variant A/G snv 0.19 0.700 1.000 1 2013 2013