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: rs143046984
rs143046984
9 0.790 0.080 14 70937529 intron variant -/A delins 4.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs202110856
rs202110856
9 0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs377429877
rs377429877
10 0.776 0.080 13 33518027 intron variant -/TAA delins 6.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs727502902
rs727502902
4 0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 0.700 1.000 6 2009 2012
dbSNP: rs121913289
rs121913289
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 10 2004 2012
dbSNP: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.700 1.000 6 2008 2019
dbSNP: rs10911251
rs10911251
9 0.790 0.080 1 183112059 intron variant A/C snv 0.37 0.700 1.000 2 2013 2019
dbSNP: rs1057519928
rs1057519928
8 0.807 0.200 3 179221147 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
10 0.776 0.160 3 179203763 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1566734
rs1566734
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.010 1.000 1 2008 2008
dbSNP: rs16973225
rs16973225
9 0.790 0.080 15 81937658 intron variant A/C snv 7.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs2184857
rs2184857
9 0.790 0.080 1 239918447 upstream gene variant A/C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs587780424
rs587780424
1 3 12433975 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs6058093
rs6058093
12 0.776 0.080 20 34625392 intron variant A/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs6720296
rs6720296
9 0.790 0.080 2 45181130 intron variant A/C snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs719725
rs719725
7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs73975588
rs73975588
NXN
9 0.790 0.080 17 913501 intron variant A/C snv 9.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
10 0.776 0.080 16 68710036 intron variant A/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs281875324
rs281875324
3 1.000 0.120 18 51065456 missense variant A/C;G snv 0.700 1.000 7 1996 2007
dbSNP: rs1057520002
rs1057520002
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11150038
rs11150038
10 0.790 0.080 16 78042662 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs17102823
rs17102823
10 0.776 0.080 14 34894698 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.790 0.970 33 2002 2019
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 12 2004 2016
dbSNP: rs397517201
rs397517201
16 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 11 2004 2016