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 0.090 0.889 9 2005 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2013 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2004 2009
dbSNP: rs768623239
rs768623239
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.020 1.000 2 2001 2013
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
dbSNP: rs10759
rs10759
4 0.851 0.160 1 163076561 3 prime UTR variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11249206
rs11249206
4 0.851 0.160 1 24951491 intron variant C/T snv 0.48 0.010 1.000 1 2008 2008
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2007 2007
dbSNP: rs1194611372
rs1194611372
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs140241283
rs140241283
3 0.882 0.120 1 11796249 start lost A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1476413
rs1476413
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2012 2012
dbSNP: rs1484761909
rs1484761909
3 0.882 0.120 1 109688224 missense variant A/G snv 3.0E-05 3.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs1883965
rs1883965
8 0.807 0.160 1 11262099 intron variant A/G snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs197414
rs197414
3 0.882 0.120 1 111766501 missense variant C/A;T snv 0.12; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2067079
rs2067079
7 0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs2295080
rs2295080
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3219493
rs3219493
3 0.882 0.120 1 45330597 intron variant G/C snv 0.92 0.93 0.010 1.000 1 2016 2016
dbSNP: rs6790
rs6790
7 0.790 0.320 1 173865494 non coding transcript exon variant G/A snv 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs760805
rs760805
9 0.776 0.240 1 24925432 intron variant A/T snv 0.42 0.010 1.000 1 2008 2008
dbSNP: rs8444
rs8444
3 0.882 0.120 1 150966095 3 prime UTR variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs8679
rs8679
7 0.790 0.200 1 226360853 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs11892031
rs11892031
5 0.882 0.120 2 233656637 intron variant A/C;T snv 0.730 0.750 4 2010 2015