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: rs104894378
rs104894378
6 0.882 0.120 12 114385521 missense variant C/G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs104894381
rs104894381
5 0.925 0.120 12 114401830 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs121909497
rs121909497
3 0.925 0.080 11 102955390 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121918502
rs121918502
9 0.790 0.160 10 121517351 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs786201044
rs786201044
8 0.827 0.200 10 87933165 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs104893951
rs104893951
5 0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1057517786
rs1057517786
3 0.925 0.400 3 167704889 stop gained G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121909173
rs121909173
5 0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs80338852
rs80338852
3 0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121918355
rs121918355
7 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.010 1.000 1 2011 2011
dbSNP: rs12720071
rs12720071
7 0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs756434709
rs756434709
2 9 136514670 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs806368
rs806368
14 0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2012 2012
dbSNP: rs387906617
rs387906617
2 2 207567506 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs4954218
rs4954218
5 0.925 0.080 2 135045855 intron variant G/T snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs764120087
rs764120087
2 22 41117439 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs201968272
rs201968272
3 0.925 0.160 12 31089147 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs12329305
rs12329305
1 2 19353152 synonymous variant C/A;T snv 1.6E-04; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs527236031
rs527236031
5 0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2014 2014