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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.902 61 2002 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.813 32 2004 2019
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.100 1.000 16 2009 2020
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.100 0.867 15 2007 2020
dbSNP: rs11249433
rs11249433
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.770 0.778 9 2009 2016
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.080 0.750 8 2008 2017
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.080 0.875 8 2009 2018
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.060 0.667 6 2008 2019
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.050 0.800 5 2010 2018
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.040 1.000 4 2007 2014
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.040 1.000 4 2011 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.040 0.750 4 2012 2018
dbSNP: rs201765376
rs201765376
MTR
12 0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 0.040 1.000 4 2008 2016
dbSNP: rs4245739
rs4245739
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.730 0.750 4 2013 2018
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.040 0.750 4 2007 2014
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.040 0.750 4 2014 2018
dbSNP: rs768623239
rs768623239
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.040 0.750 4 2003 2017
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 1.000 3 2012 2015
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 0.333 3 2012 2018
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 0.333 3 2012 2014
dbSNP: rs1805414
rs1805414
2 0.925 0.080 1 226385663 synonymous variant A/G snv 0.43 0.42 0.030 0.667 3 2007 2018
dbSNP: rs200890679
rs200890679
7 0.790 0.240 1 11795191 missense variant C/A;G snv 1.8E-04 2.0E-04 0.030 0.667 3 2007 2017
dbSNP: rs36053993
rs36053993
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.030 0.667 3 2009 2019
dbSNP: rs3738414
rs3738414
2 0.925 0.080 1 117210906 5 prime UTR variant G/A;T snv 3.8E-02 0.030 1.000 3 2009 2015
dbSNP: rs5277
rs5277
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.030 0.667 3 2010 2015