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 0.829 70 1999 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.806 31 2002 2019
dbSNP: rs34612342
rs34612342
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.800 1.000 17 2002 2019
dbSNP: rs36053993
rs36053993
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.800 0.941 17 2002 2019
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.100 0.818 11 2006 2019
dbSNP: rs6687758
rs6687758
11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.840 1.000 8 2010 2019
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.070 0.714 7 2005 2013
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.060 0.833 6 2008 2019
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.060 0.667 6 2005 2013
dbSNP: rs3219489
rs3219489
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.060 0.833 6 2008 2018
dbSNP: rs587780078
rs587780078
4 0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04 0.700 1.000 6 2004 2012
dbSNP: rs587783057
rs587783057
3 0.925 0.120 1 45331676 stop gained G/A snv 1.2E-05 0.700 1.000 6 2005 2009
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.050 0.600 5 1999 2013
dbSNP: rs1342387
rs1342387
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.040 1.000 4 2011 2015
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.040 1.000 4 2012 2014
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 0.750 4 2009 2014
dbSNP: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.040 1.000 4 2012 2015
dbSNP: rs529008617
rs529008617
7 0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05 0.700 1.000 4 2005 2010
dbSNP: rs587778536
rs587778536
4 0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05 0.700 1.000 4 2006 2009
dbSNP: rs587780088
rs587780088
5 0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 4 2008 2009
dbSNP: rs587782885
rs587782885
3 0.925 0.120 1 45332440 stop gained G/A;C snv 4.0E-06 0.700 1.000 4 2005 2009
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.030 0.667 3 2010 2014
dbSNP: rs12733285
rs12733285
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.030 0.667 3 2011 2015
dbSNP: rs145204276
rs145204276
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.030 1.000 3 2016 2018
dbSNP: rs587781628
rs587781628
5 0.882 0.120 1 45331558 splice acceptor variant T/C snv 2.4E-05 7.0E-06 0.700 1.000 3 2004 2005