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: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2010 2010
dbSNP: rs2695121
rs2695121
NR1H2
16 0.716 0.280 19 50377484 5 prime UTR variant T/C snv 0.70 0.020 < 0.001 2 2013 2014
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2009 2009
dbSNP: rs35463555
rs35463555
NR1H2
8 0.776 0.160 19 50374423 intron variant G/A snv 0.29 0.010 < 0.001 1 2013 2013
dbSNP: rs11082960
rs11082960
DCC
1 1.000 0.080 18 52999470 intron variant G/T snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs4077283
rs4077283
DCC
1 1.000 0.080 18 53019949 intron variant G/A snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs4078288
rs4078288
DCC
3 0.882 0.120 18 53020881 intron variant G/A snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs4078289
rs4078289
DCC
1 1.000 0.080 18 53020735 intron variant A/G snv 0.75 0.700 1.000 1 2012 2012
dbSNP: rs4940234
rs4940234
DCC
1 1.000 0.080 18 53012182 intron variant C/A snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs7233818
rs7233818
DCC
1 1.000 0.080 18 53009439 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs7504512
rs7504512
DCC
1 1.000 0.080 18 53003267 intron variant G/A snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs7504750
rs7504750
DCC
1 1.000 0.080 18 53021270 intron variant C/A snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs7504990
rs7504990
DCC
4 0.851 0.120 18 52991406 intron variant T/C snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs7506454
rs7506454
DCC
1 1.000 0.080 18 53007301 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs7506663
rs7506663
DCC
1 1.000 0.080 18 52993157 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs7507060
rs7507060
DCC
1 1.000 0.080 18 52999187 intron variant C/T snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs9304437
rs9304437
DCC
1 1.000 0.080 18 52995196 intron variant T/G snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs9944713
rs9944713
DCC
1 1.000 0.080 18 53008042 intron variant C/A snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs9957080
rs9957080
DCC
1 1.000 0.080 18 52994363 intron variant G/T snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2007 2009
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2007 2009