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: rs967591
rs967591
PPP1R13L ; CD3EAP
4 0.851 0.080 19 45406676 5 prime UTR variant G/A;C;T snv 0.22; 6.7E-06 0.060 1.000 6 2012 2018
dbSNP: rs4488809
rs4488809
TP63
5 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.050 1.000 5 2011 2015
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.040 1.000 4 2012 2015
dbSNP: rs6495309
rs6495309
CHRNA3 ; CHRNB4
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.040 1.000 4 2009 2014
dbSNP: rs146795390
rs146795390
EGFR
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.030 1.000 3 2008 2014
dbSNP: rs2352028
rs2352028
GPC5
6 0.851 0.080 13 91792975 intron variant C/G;T snv 0.030 1.000 3 2010 2015
dbSNP: rs931794
rs931794
HYKK
7 0.851 0.080 15 78533838 3 prime UTR variant G/A;C snv 0.030 1.000 3 2009 2015
dbSNP: rs11540478
rs11540478
IDH2
4 0.851 0.080 15 90085305 synonymous variant G/A;C snv 3.5E-02; 6.4E-06 0.020 1.000 2 2017 2018
dbSNP: rs125555
rs125555
MBD1
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.020 1.000 2 2005 2008
dbSNP: rs13009079
rs13009079
CIR1 ; SCRN3
3 0.882 0.080 2 174396420 intron variant T/C snv 0.26 0.020 1.000 2 2014 2016
dbSNP: rs156641
rs156641
LIG1
3 0.882 0.080 19 48128151 intron variant C/T snv 0.29 0.020 0.500 2 2008 2015
dbSNP: rs2036527
rs2036527 		12 0.851 0.080 15 78559273 regulatory region variant G/A snv 0.29 0.020 1.000 2 2010 2016
dbSNP: rs20579
rs20579
LIG1
3 0.882 0.080 19 48165573 5 prime UTR variant G/A;C snv 0.13 0.020 0.500 2 2008 2015
dbSNP: rs2977536
rs2977536
CCN4
4 0.851 0.080 8 133207034 intron variant G/C snv 0.36 0.020 1.000 2 2014 2015
dbSNP: rs3730931
rs3730931
LIG1 ; LOC107985293
3 0.882 0.080 19 48143984 intron variant T/C snv 0.12 0.15 0.020 0.500 2 2008 2015
dbSNP: rs439132
rs439132
LIG1
3 0.882 0.080 19 48165657 intron variant T/C snv 5.6E-02 9.6E-02 0.020 0.500 2 2008 2015
dbSNP: rs7214723
rs7214723
CAMKK1
4 0.882 0.080 17 3872554 missense variant T/C snv 0.45 0.36 0.020 1.000 2 2013 2017
dbSNP: rs7631358
rs7631358
TP63
4 0.851 0.080 3 189630622 upstream gene variant G/A snv 0.13 0.020 1.000 2 2014 2017
dbSNP: rs763317
rs763317
EGFR
3 0.882 0.080 7 55027504 intron variant A/G snv 0.59 0.020 1.000 2 2009 2015
dbSNP: rs7811989
rs7811989
AHR
3 0.882 0.080 7 17331739 intron variant A/G snv 0.76 0.020 1.000 2 2009 2018
dbSNP: rs78768932
rs78768932
PXN
6 0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03 0.020 1.000 2 2008 2011
dbSNP: rs928508
rs928508
NFYC ; MIR30C1
4 0.851 0.080 1 40757742 intron variant G/A;T snv 0.50 0.020 0.500 2 2016 2018
dbSNP: rs1002481
rs1002481
REV3L ; MFSD4B
3 0.882 0.080 6 111390819 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs10040363
rs10040363
XRCC4
3 0.882 0.080 5 83177826 intron variant A/G snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs10053847
rs10053847
IL7R
3 0.882 0.080 5 35878038 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2019 2019