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: rs34713741
rs34713741
3 0.882 0.280 15 101277671 upstream gene variant C/A;T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs994411260
rs994411260
2 0.925 0.160 19 10194877 missense variant G/C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1400094618
rs1400094618
MOK
3 0.882 0.240 14 102229508 missense variant A/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs770917264
rs770917264
MOK
1 1.000 0.120 14 102229547 stop gained G/A;C snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
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 2012 2012
dbSNP: rs281432
rs281432
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2006 2006
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.050 1.000 5 2006 2018
dbSNP: rs652438
rs652438
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.020 1.000 2 2006 2014
dbSNP: rs2268388
rs2268388
6 0.851 0.200 12 109205840 intron variant G/A snv 0.14 0.020 1.000 2 2013 2015
dbSNP: rs1411766
rs1411766
3 0.882 0.160 13 109599813 intron variant G/A;T snv 0.020 1.000 2 2010 2011
dbSNP: rs713041
rs713041
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2013 2013
dbSNP: rs688
rs688
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs1249910
rs1249910
1 1.000 0.120 3 112672327 intergenic variant A/G snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.030 1.000 3 2014 2018
dbSNP: rs290487
rs290487
10 0.776 0.280 10 113149972 intron variant C/T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2004 2004
dbSNP: rs6997279
rs6997279
3 0.882 0.160 8 116961613 intron variant G/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs5030717
rs5030717
9 0.807 0.240 9 117711556 intron variant A/G snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs5030718
rs5030718
8 0.827 0.200 9 117713548 stop gained G/A;T snv 3.1E-03; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2000 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.960 25 2000 2019
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2015 2019