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: 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: rs3813565
rs3813565
CHRNB4 ; LOC105370913
6 0.851 0.080 15 78727268 splice region variant G/A;T snv 0.700 1.000 2 2009 2012
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: rs9387478
rs9387478
DCBLD1
4 0.851 0.080 6 117465017 intron variant C/A;T snv 0.710 1.000 2 2012 2016
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
dbSNP: rs10054203
rs10054203
TERT
3 0.882 0.080 5 1279849 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1014264982
rs1014264982
HMG20B
3 0.882 0.080 19 3577038 missense variant G/A;C snv 6.8E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs10187911
rs10187911
NRXN1
3 0.882 0.080 2 50420809 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1019340046
rs1019340046
TP53
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs10244817
rs10244817
POT1
3 0.882 0.080 7 124827416 intron variant T/C snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs10254120
rs10254120
PMS2
5 0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1026411
rs1026411
PCAT1 ; LOC105375751
5 0.827 0.080 8 127014165 intron variant G/A;C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs10412613
rs10412613
PPP2R1A
3 0.882 0.080 19 52209575 intron variant G/A snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1043973338
rs1043973338
IL1B
3 0.882 0.080 2 112830483 missense variant A/C snv 0.010 1.000 1 2007 2007