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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2003 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.800 5 2004 2017
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 0.800 5 2004 2017
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.050 0.800 5 2004 2017
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 0.750 4 2009 2015
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 0.750 4 2009 2017
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.020 0.500 2 2009 2016
dbSNP: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.020 1.000 2 2004 2007
dbSNP: rs799917
rs799917
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.020 1.000 2 2013 2018
dbSNP: rs10008492
rs10008492
2 1.000 0.120 4 38764099 intergenic variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1003421753
rs1003421753
1 1.000 0.120 3 159989088 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1044129
rs1044129
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
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: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs113686495
rs113686495
4 0.925 0.160 2 201258757 intron variant ATTCTGTC/- delins 0.010 1.000 1 2011 2011
dbSNP: rs1163350491
rs1163350491
OCM
1 1.000 0.120 7 5880922 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1185926926
rs1185926926
1 1.000 0.120 21 45531748 missense variant A/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs1207011218
rs1207011218
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1250480918
rs1250480918
1 1.000 0.120 21 45537803 synonymous variant G/A snv 4.6E-06 0.010 1.000 1 2015 2015
dbSNP: rs1320767909
rs1320767909
1 1.000 0.120 21 45531982 missense variant A/G snv 4.1E-06 0.010 1.000 1 2015 2015