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: rs486907
rs486907
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.100 0.708 24 2002 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.750 16 2004 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.727 11 2004 2016
dbSNP: rs627928
rs627928
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.080 0.875 8 2004 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.050 1.000 5 2010 2018
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.040 0.500 4 2009 2015
dbSNP: rs4245739
rs4245739
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.720 1.000 4 2013 2018
dbSNP: rs17599629
rs17599629
1 1.000 0.080 1 150685811 intron variant A/G snv 0.17 0.700 1.000 3 2014 2018
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 0.667 3 2011 2017
dbSNP: rs2745557
rs2745557
6 0.807 0.200 1 186680089 intron variant A/G snv 0.83 0.030 1.000 3 2007 2016
dbSNP: rs636291
rs636291
2 0.925 0.080 1 10496040 intron variant G/A snv 0.55 0.710 1.000 3 2014 2018
dbSNP: rs74315364
rs74315364
13 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 0.030 1.000 3 2004 2005
dbSNP: rs1047303
rs1047303
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.020 1.000 2 2002 2007
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.020 1.000 2 2004 2005
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.020 0.500 2 2003 2014
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2003 2016
dbSNP: rs1218582
rs1218582
2 0.925 0.080 1 154861707 intron variant G/A snv 0.46 0.700 1.000 2 2013 2018
dbSNP: rs12757998
rs12757998
3 0.925 0.080 1 182569343 downstream gene variant C/T snv 0.24 0.020 1.000 2 2010 2013
dbSNP: rs145204276
rs145204276
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2019 2019
dbSNP: rs17036508
rs17036508
4 0.925 0.080 1 11195977 3 prime UTR variant T/C snv 9.0E-02 0.020 1.000 2 2013 2017
dbSNP: rs201765376
rs201765376
MTR
12 0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 0.020 1.000 2 2010 2013
dbSNP: rs2295080
rs2295080
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.020 1.000 2 2012 2013
dbSNP: rs45609334
rs45609334
2 0.925 0.080 1 119514623 missense variant C/A snv 0.76 0.020 1.000 2 2002 2007
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.020 0.500 2 2008 2011
dbSNP: rs1012477
rs1012477
8 0.827 0.160 1 7798075 intron variant G/C snv 0.16 0.010 1.000 1 2009 2009