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: rs1017621656
rs1017621656
3 0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs10222633
rs10222633
4 0.925 0.080 3 122258079 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs1042636
rs1042636
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1044129
rs1044129
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10450310
rs10450310
2 0.925 0.080 10 52764898 downstream gene variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1051753269
rs1051753269
7 0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057519725
rs1057519725
6 0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1057519822
rs1057519822
3 0.925 0.080 15 66481818 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1060503118
rs1060503118
2 0.925 0.080 7 5987422 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1064795841
rs1064795841
4 0.882 0.080 17 7674971 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs10759932
rs10759932
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs10958713
rs10958713
2 0.925 0.080 8 42323198 intron variant C/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2008 2008
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs1131691021
rs1131691021
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs1131691029
rs1131691029
6 0.827 0.160 17 7673794 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 < 0.001 1 2009 2009
dbSNP: rs11536898
rs11536898
3 0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs11539752
rs11539752
6 0.882 0.120 14 24632383 missense variant G/C snv 0.21 0.26 0.010 < 0.001 1 2015 2015