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: rs2073664
rs2073664
DKK4
5 0.851 0.120 8 42374268 synonymous variant G/A snv 0.14 0.25 0.010 1.000 1 2018 2018
dbSNP: rs2228059
rs2228059
IL15RA ; LOC107984200
5 0.882 0.080 10 5960405 missense variant T/G snv 0.51 0.55 0.010 1.000 1 2014 2014
dbSNP: rs3114020
rs3114020
ABCG2
5 0.882 0.200 4 88162514 intron variant T/C snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 < 0.001 1 2017 2017
dbSNP: rs1164376164
rs1164376164
ABCB1
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.020 0.500 2 2006 2008
dbSNP: rs1443465532
rs1443465532
VEGFA
6 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1454328441
rs1454328441
MUC1
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs2168351
rs2168351
ST8SIA2
6 0.851 0.120 15 92440492 intron variant A/G snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs2229090
rs2229090
XPC
6 0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 0.010 1.000 1 2017 2017
dbSNP: rs2564978
rs2564978
CD55
6 0.827 0.080 1 207321071 upstream gene variant T/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs2835267
rs2835267
SETD4 ; LOC100133286
6 0.827 0.080 21 36074727 intron variant T/C snv 0.63 0.010 < 0.001 1 2017 2017
dbSNP: rs3660
rs3660
KRT81 ; KRT86
6 0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs3784730
rs3784730
ST8SIA2
6 0.851 0.120 15 92443898 intron variant A/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs121912665
rs121912665
TP53
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12203582
rs12203582
IL17F
7 0.827 0.120 6 52240759 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs373129709
rs373129709
EGFR ; LOC105375284
7 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 0.010 1.000 1 2007 2007
dbSNP: rs6465657
rs6465657
LMTK2
7 0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 0.010 1.000 1 2010 2010
dbSNP: rs689465
rs689465
PTGS2 ; PACERR
7 0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs753152604
rs753152604
CDK4
7 0.827 0.040 12 57751680 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs577715207
rs577715207
TP63
8 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs146795390
rs146795390
EGFR
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1989969
rs1989969
VDR
8 0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs199769221
rs199769221
PRSS1
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.010 < 0.001 1 2000 2000
dbSNP: rs2279574
rs2279574
DUSP6
8 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 0.010 1.000 1 2018 2018