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: rs1231202
rs1231202
PRKDC
2 0.925 0.080 8 47933959 splice region variant T/A;C snv 0.96 0.010 1.000 1 2008 2008
dbSNP: rs1635498
rs1635498
EXO1
9 0.807 0.160 1 241881973 missense variant C/A;G;T snv 0.96 0.010 1.000 1 2009 2009
dbSNP: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2017 2017
dbSNP: rs2214102
rs2214102
ABCB1
2 0.925 0.080 7 87600185 5 prime UTR variant T/A;C snv 0.95 0.020 1.000 2 2010 2011
dbSNP: rs10754339
rs10754339
VTCN1
3 0.882 0.120 1 117147650 3 prime UTR variant G/A snv 0.88 0.76 0.010 1.000 1 2009 2009
dbSNP: rs425535
rs425535
CXCL5
2 0.925 0.080 4 73998280 synonymous variant T/C snv 0.87 0.80 0.010 1.000 1 2013 2013
dbSNP: rs1625895
rs1625895
TP53
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.020 1.000 2 2008 2011
dbSNP: rs1997623
rs1997623
CAV1
9 0.807 0.160 7 116525306 missense variant A/C;G snv 0.86 0.010 1.000 1 2019 2019
dbSNP: rs1802904
rs1802904
ATR ; XRN1
2 0.925 0.080 3 142449489 synonymous variant C/T snv 0.86 0.89 0.010 1.000 1 2013 2013
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.060 0.833 6 2004 2017
dbSNP: rs1675126
rs1675126
INCENP
3 0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88 0.010 1.000 1 2015 2015
dbSNP: rs2682818
rs2682818
LIN7A ; MIR618 ; LOC105369869
14 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 0.030 1.000 3 2012 2019
dbSNP: rs1059476
rs1059476
AURKB
2 0.925 0.080 17 8205013 missense variant A/G snv 0.83 0.81 0.010 < 0.001 1 2007 2007
dbSNP: rs1046428
rs1046428
GSTZ1
8 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 0.010 1.000 1 2010 2010
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2017 2017
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
5 0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80 0.010 1.000 1 2014 2014
dbSNP: rs2479717
rs2479717
CCND3
3 0.925 0.080 6 41937436 intron variant T/A snv 0.79 0.81 0.010 1.000 1 2008 2008
dbSNP: rs1871446
rs1871446
CDK1
2 0.925 0.080 10 60794005 3 prime UTR variant A/G snv 0.78 0.75 0.010 1.000 1 2013 2013
dbSNP: rs1156287
rs1156287
STXBP4
2 0.925 0.080 17 54999438 missense variant G/A snv 0.78 0.79 0.010 1.000 1 2016 2016
dbSNP: rs12676
rs12676
CHDH
5 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2008 2008
dbSNP: rs4245739
rs4245739
MDM4
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.730 0.800 5 2013 2018
dbSNP: rs10901425
rs10901425
MMP21
4 0.851 0.200 10 125773956 missense variant A/G snv 0.76 0.78 0.010 < 0.001 1 2004 2004
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.769 13 2003 2015
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2011 2011
dbSNP: rs3865014
rs3865014
GLCE
8 0.851 0.080 15 69269179 missense variant G/A snv 0.75 0.69 0.010 1.000 1 2017 2017