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 0.833 12 2003 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2003 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.040 1.000 4 2003 2015
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2010 2015
dbSNP: rs1800890
rs1800890
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.020 1.000 2 2007 2009
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1041163
rs1041163
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs1052576
rs1052576
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2010 2010
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs1256046734
rs1256046734
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12711521
rs12711521
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1353759920
rs1353759920
4 0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs1800893
rs1800893
1 1.000 0.120 1 206773822 intron variant C/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2006 2006
dbSNP: rs201765376
rs201765376
MTR
12 0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs207186
rs207186
2 0.925 0.120 1 55359252 intron variant C/T snv 7.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs4245739
rs4245739
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.010 1.000 1 2014 2014
dbSNP: rs4661636
rs4661636
2 0.925 0.160 1 15496566 intron variant C/T snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs61733010
rs61733010
2 0.925 0.120 1 45561805 missense variant C/G;T snv 4.0E-06; 4.3E-04 1.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs766588452
rs766588452
1 1.000 0.120 1 65621389 missense variant A/C;G snv 8.0E-06; 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs121908689
rs121908689
2 0.925 0.120 1 46272758 missense variant T/A snv 0.700 0
dbSNP: rs3769821
rs3769821
4 0.851 0.200 2 201258707 intron variant C/T snv 0.57 0.020 1.000 2 2011 2013