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: rs2281983
rs2281983
4 0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06 0.010 1.000 1 2017 2017
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 2019 2019
dbSNP: rs652438
rs652438
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs223331
rs223331
5 0.851 0.160 4 102872408 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs223330
rs223330
4 0.851 0.160 4 102872502 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1394871591
rs1394871591
5 0.827 0.200 9 104903619 missense variant G/C snv 4.8E-06 0.010 1.000 1 2005 2005
dbSNP: rs80356715
rs80356715
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs367543041
rs367543041
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs2200733
rs2200733
12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs11669576
rs11669576
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs5930
rs5930
8 0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66 0.010 1.000 1 2017 2017
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2012 2013
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2011
dbSNP: rs3087258
rs3087258
2 0.925 0.080 2 112837294 upstream gene variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs6330
rs6330
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2001 2012
dbSNP: rs2420616
rs2420616
3 0.882 0.080 10 119316984 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs4752293
rs4752293
3 0.882 0.080 10 119342186 intron variant C/T snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs2298813
rs2298813
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2010 2011
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2010 2011