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 0.020 0.500 2 2007 2009
dbSNP: rs121913282
rs121913282
4 0.882 0.040 3 179221072 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs12951053
rs12951053
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs7591996
rs7591996
3 0.882 0.040 2 6321289 intron variant A/C snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs29001322
rs29001322
3 0.882 0.040 10 97462918 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs770771727
rs770771727
3 0.882 0.040 6 144751941 missense variant A/C;G snv 4.5E-05; 2.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs8103992
rs8103992
3 0.882 0.040 19 19554834 regulatory region variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.100 0.818 11 2012 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2015 2019
dbSNP: rs780673045
rs780673045
3 0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05 0.020 1.000 2 1999 2004
dbSNP: rs10208273
rs10208273
3 0.882 0.040 2 6383862 intergenic variant A/G snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1061970
rs1061970
3 0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2014 2014
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1989839
rs1989839
8 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 0.010 1.000 1 2016 2016
dbSNP: rs367597251
rs367597251
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs6218
rs6218
13 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs7023329
rs7023329
9 0.790 0.160 9 21816529 intron variant A/G snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs9895829
rs9895829
6 0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs998075
rs998075
3 0.882 0.040 6 160047246 synonymous variant A/G snv 0.53 0.54 0.010 1.000 1 2007 2007
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2011 2019
dbSNP: rs10019009
rs10019009
4 0.851 0.080 4 87661983 missense variant A/G;T snv 4.0E-06; 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2015 2015