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: rs112106319
rs112106319
3 0.925 0.040 9 115094539 intron variant A/T snv 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs12476147
rs12476147
4 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 0.010 1.000 1 2018 2018
dbSNP: rs16875288
rs16875288
4 0.851 0.040 5 5297087 intron variant A/T snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs183042538
rs183042538
3 0.925 0.040 20 41197420 intron variant A/T snv 3.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs259127
rs259127
3 0.882 0.040 5 79762819 non coding transcript exon variant A/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2017 2017
dbSNP: rs62100776
rs62100776
DCC
2 0.925 0.040 18 53228263 intron variant A/T snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.010 1.000 1 2006 2006
dbSNP: rs200855945
rs200855945
3 0.925 0.040 12 26124961 5 prime UTR variant ACACGCACAC/-;ACACGCACACACACGCACAC delins 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2010 2010
dbSNP: rs4839421
rs4839421
3 0.925 0.040 1 110479338 intron variant C/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs772335034
rs772335034
1 1.000 0.040 12 132618851 missense variant C/A snv 9.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs853679
rs853679
4 0.851 0.160 6 28329086 intron variant C/A snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs195478
rs195478
2 0.925 0.040 6 115851928 intergenic variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.030 0.333 3 2007 2016
dbSNP: rs2242446
rs2242446
9 0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv 0.020 1.000 2 2008 2017
dbSNP: rs11990063
rs11990063
3 0.925 0.040 8 10307685 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs56388524
rs56388524
3 0.925 0.040 5 45757459 intergenic variant C/A;T snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs6857715
rs6857715
5 0.827 0.160 4 155208030 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.050 1.000 5 2009 2017
dbSNP: rs1401635
rs1401635
4 0.925 0.040 11 27672444 intron variant C/G snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs4238989
rs4238989
4 0.851 0.120 17 76467306 intron variant C/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4887379
rs4887379
2 0.925 0.040 15 88184105 intron variant C/G snv 0.24 0.010 1.000 1 2008 2008
dbSNP: rs5743467
rs5743467
3 0.925 0.040 8 6874007 intron variant C/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2003 2003