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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2010 2013
dbSNP: rs11789015
rs11789015
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs199907548
rs199907548
5 0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs2687201
rs2687201
6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs1059536
rs1059536
3 1.000 0.080 6 29943448 missense variant A/C;G;T snv 4.1E-06; 0.17 0.010 1.000 1 2019 2019
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
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 2008 2008
dbSNP: rs2188554
rs2188554
1 1.000 0.080 7 117400063 intron variant A/G snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs2341926
rs2341926
2 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs4740363
rs4740363
1 1.000 0.080 9 130753797 intron variant A/G snv 7.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs4800353
rs4800353
5 0.925 0.080 18 22074176 intergenic variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs7324547
rs7324547
1 1.000 0.080 13 28355470 intron variant A/G snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs7632500
rs7632500
5 0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs9257809
rs9257809
10 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs9823696
rs9823696
2 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.710 1.000 1 2016 2016
dbSNP: rs4676893
rs4676893
3 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs76014404
rs76014404
1 1.000 0.080 6 61681634 intron variant AAACA/-;AAACAAAACA delins 0.20 0.700 1.000 1 2016 2016
dbSNP: rs768170742
rs768170742
3 1.000 0.080 6 29943448 frameshift variant ATGA/- del 1.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs2236302
rs2236302
1 1.000 0.080 14 22843345 synonymous variant C/A;G snv 8.0E-06; 0.12 0.010 1.000 1 2011 2011
dbSNP: rs3731249
rs3731249
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2014 2014
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7852462
rs7852462
2 0.925 0.080 9 97548219 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 0.500 2 2010 2013