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: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 < 0.001 1 2012 2012
dbSNP: rs1132200
rs1132200
3 0.925 0.160 3 119431989 missense variant C/T snv 0.12 0.11 0.010 < 0.001 1 2012 2012
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs12115114
rs12115114
2 1.000 0.080 8 63477322 non coding transcript exon variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2010 2010
dbSNP: rs1310182
rs1310182
4 0.882 0.360 1 113830881 intron variant A/C;G snv 0.56 0.010 < 0.001 1 2012 2012
dbSNP: rs1517440
rs1517440
2 1.000 0.080 2 220589153 intron variant T/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs17758761
rs17758761
2 1.000 0.080 17 55977164 intron variant A/C snv 4.1E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 < 0.001 1 2018 2018
dbSNP: rs1800693
rs1800693
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs2221903
rs2221903
12 0.752 0.360 4 122617757 intron variant C/T snv 0.77 0.010 < 0.001 1 2015 2015
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 < 0.001 1 2003 2003
dbSNP: rs28933696
rs28933696
5 0.882 0.160 19 15192134 missense variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs305217
rs305217
2 1.000 0.080 1 88754789 intron variant G/A snv 8.6E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs35018800
rs35018800
9 0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs3789604
rs3789604
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 < 0.001 1 2012 2012
dbSNP: rs3838646
rs3838646
8 0.827 0.320 Y 18991182 intron variant CA/- del 0.010 < 0.001 1 2015 2015
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 < 0.001 1 2018 2018
dbSNP: rs4798571
rs4798571
2 1.000 0.080 18 7584296 intron variant G/A snv 0.39 0.010 < 0.001 1 2012 2012
dbSNP: rs752295912
rs752295912
6 0.925 0.080 17 39710398 missense variant C/T snv 1.6E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs7538427
rs7538427
2 1.000 0.080 1 88873739 intron variant C/T snv 0.93 0.010 < 0.001 1 2012 2012
dbSNP: rs9657904
rs9657904
3 0.925 0.160 3 105867870 intron variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.030 0.333 3 2014 2018