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: rs603424
rs603424
13 1.000 0.080 10 100315722 intron variant G/A snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs3176867
rs3176867
1 1 100728649 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs604723
rs604723
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs10748798
rs10748798
1 10 100794914 intron variant C/T snv 0.91 0.700 1.000 1 2019 2019
dbSNP: rs763802417
rs763802417
5 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 0.010 1.000 1 2016 2016
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 1.000 3 2014 2019
dbSNP: rs9806366
rs9806366
1 15 101262752 intergenic variant C/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs28628459
rs28628459
1 15 101272152 intron variant T/C snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs12917258
rs12917258
1 15 101273134 intron variant C/G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs4965814
rs4965814
2 1.000 0.080 15 101273712 intron variant C/T snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2006 2006
dbSNP: rs1074703
rs1074703
1 8 101803258 intron variant C/A snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs13127398
rs13127398
1 4 102000547 intron variant T/A snv 4.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs10409243
rs10409243
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2012 2012
dbSNP: rs5491
rs5491
6 0.827 0.160 19 10274864 missense variant A/G;T snv 4.0E-06; 2.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs281432
rs281432
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2007 2007
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2004 2012
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 2003 2003
dbSNP: rs10903323
rs10903323
8 0.807 0.160 8 10292057 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs7681002
rs7681002
1 4 102974066 intron variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs2513993
rs2513993
1 11 103082247 intron variant A/G snv 0.32 0.700 1.000 1 2019 2019