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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2007 2009
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2007 2009
dbSNP: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 < 0.001 1 2017 2017
dbSNP: rs4791171
rs4791171
11 0.763 0.080 17 65545379 intron variant T/C snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs6259
rs6259
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs775066324
rs775066324
7 0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs909629195
rs909629195
7 0.790 0.080 17 38914448 missense variant C/T snv 0.010 1.000 1 2016 2016
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: rs2695121
rs2695121
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
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