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: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.050 1.000 5 2013 2018
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2009 2017
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2013 2017
dbSNP: rs10168266
rs10168266
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121917737
rs121917737
5 0.827 0.080 10 79557264 missense variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs121917738
rs121917738
5 0.827 0.080 10 79557363 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1433372015
rs1433372015
2 0.925 0.040 5 139480855 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2034650
rs2034650
IVD
2 1.000 0.040 15 40425103 intron variant G/A snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs2241718
rs2241718
4 0.882 0.040 19 41323701 3 prime UTR variant G/A snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs2609255
rs2609255
4 0.882 0.080 4 88890044 intron variant G/T snv 0.73 0.010 1.000 1 2018 2018
dbSNP: rs34794968
rs34794968
2 0.925 0.200 18 69863790 3 prime UTR variant C/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs587777609
rs587777609
4 0.851 0.040 5 139480849 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs6837671
rs6837671
4 0.925 0.040 4 88951941 intron variant A/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs727088
rs727088
8 0.790 0.400 18 69863203 3 prime UTR variant G/A snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs141425941
rs141425941
2 0.925 0.040 5 1272196 missense variant C/T snv 9.0E-05 1.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs1022113606
rs1022113606
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs652438
rs652438
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 < 0.001 1 2010 2010
dbSNP: rs1799895
rs1799895
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs3917200
rs3917200
3 0.882 0.080 14 75963525 intron variant A/G snv 9.2E-02 0.14 0.010 1.000 1 2011 2011
dbSNP: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.020 1.000 2 2013 2017