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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs3801266
rs3801266
3 0.925 0.080 7 106283804 intron variant T/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1319501
rs1319501
4 0.882 0.120 7 106285307 intron variant C/A;T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs757228
rs757228
2 0.925 0.120 19 1101993 upstream gene variant A/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs8103188
rs8103188
1 1.000 0.080 19 1103466 upstream gene variant A/G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs2796749
rs2796749
2 0.925 0.080 6 110873500 upstream gene variant C/A;G snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.030 1.000 3 2009 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2009 2016
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs997509
rs997509
6 0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02 0.010 1.000 1 2009 2009
dbSNP: rs3918188
rs3918188
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs743506
rs743506
4 0.925 0.120 7 151009827 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs7830
rs7830
11 0.763 0.320 7 151012483 3 prime UTR variant G/T snv 0.38 0.32 0.010 1.000 1 2015 2015
dbSNP: rs6857715
rs6857715
5 0.827 0.160 4 155208030 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2943650
rs2943650
6 0.827 0.120 2 226241205 intergenic variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2015 2015
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs2030323
rs2030323
6 0.925 0.080 11 27706992 intron variant A/C snv 0.83 0.010 1.000 1 2017 2017
dbSNP: rs406113
rs406113
3 0.882 0.160 6 28515705 missense variant A/C snv 0.38 0.45 0.010 1.000 1 2014 2014
dbSNP: rs445870
rs445870
1 1.000 0.080 6 28526550 intron variant A/G snv 0.39 0.010 1.000 1 2014 2014