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: 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 2017 2017
dbSNP: rs3740393
rs3740393
AS3MT ; BORCS7-ASMT
10 0.776 0.280 10 102876898 intron variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs3753841
rs3753841
COL11A1
7 0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49 0.010 1.000 1 2013 2013
dbSNP: rs2252070
rs2252070
MMP13
13 0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68 0.010 1.000 1 2014 2014
dbSNP: rs4910118
rs4910118
CAND1.11
2 11 10308138 upstream gene variant C/T snv 3.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs710100
rs710100
TNFAIP2
3 1.000 0.040 14 103135941 missense variant A/G snv 0.64 0.59 0.010 1.000 1 2013 2013
dbSNP: rs8126
rs8126
TNFAIP2
8 0.807 0.080 14 103137232 3 prime UTR variant C/T snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1052823
rs1052823
TNFAIP2
3 1.000 0.040 14 103137233 3 prime UTR variant G/A;C;T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1052912
rs1052912
TNFAIP2
3 1.000 0.040 14 103137316 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs111853599
rs111853599
CENPE
2 4 103196214 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
14 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.100 0.846 13 2004 2019
dbSNP: rs149642280
rs149642280
KLC1 ; XRCC3
2 14 103699501 missense variant C/T snv 1.0E-04; 4.0E-06 3.5E-05 0.020 < 0.001 2 2003 2006
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.020 0.500 2 2015 2016
dbSNP: rs2487999
rs2487999
STN1
2 10 103900068 missense variant T/A;C snv 4.0E-06; 0.91 0.010 1.000 1 2016 2016
dbSNP: rs4135113
rs4135113
TDG
5 0.925 0.080 12 103982915 missense variant G/A;C;T snv 4.7E-02 0.010 1.000 1 2014 2014
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: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2011 2011
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs2498794
rs2498794
AKT1
2 14 104778914 intron variant A/G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.050 1.000 5 2008 2017
dbSNP: rs2494752
rs2494752
AKT1
10 0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 0.030 1.000 3 2017 2018
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2015 2015
dbSNP: rs314276
rs314276
LIN28B
10 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.010 1.000 1 2012 2012