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: rs6552496
rs6552496
2 4 181371930 intergenic variant C/A snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs3887412
rs3887412
2 16 16081173 intron variant A/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs72653786
rs72653786
9 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
dbSNP: rs769405586
rs769405586
6 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs492338
rs492338
2 21 42281867 intron variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs1057517686
rs1057517686
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 < 0.001 1 2018 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs397507478
rs397507478
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs116840778
rs116840778
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs8060632
rs8060632
2 16 83591958 intron variant A/C snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs777219451
rs777219451
1 2 232540617 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs377504835
rs377504835
1 12 120438230 splice donor variant G/A;C snv 4.0E-06; 4.9E-05 0.700 0
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs12568757
rs12568757
2 1 150757317 intron variant G/A snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs17748074
rs17748074
DCC
2 18 52420925 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3750898
rs3750898
2 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 0.010 1.000 1 2018 2018
dbSNP: rs774909609
rs774909609
2 9 34990673 missense variant C/T snv 1.2E-04 1.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs1413239
rs1413239
2 1 97221459 intron variant C/T snv 0.41 0.010 1.000 1 2010 2010
dbSNP: rs916758
rs916758
2 7 96096624 intron variant A/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs1330512770
rs1330512770
2 7 55161592 missense variant G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs1555937122
rs1555937122
4 0.925 0.080 X 71223973 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs74315316
rs74315316
4 0.925 0.080 1 34784797 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs74315317
rs74315317
3 1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs74315321
rs74315321
5 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2009 2009