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: rs773829498
rs773829498
3 0.882 0.080 7 101130457 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs8177375
rs8177375
2 0.925 0.080 11 126293169 3 prime UTR variant A/G snv 0.12 0.13 0.010 1.000 1 2010 2010
dbSNP: rs867186
rs867186
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.889 9 2002 2016
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 2018 2019
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2027432
rs2027432
3 0.882 0.160 1 247415139 upstream gene variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs414171
rs414171
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs747126003
rs747126003
18 0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs909253
rs909253
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs13137
rs13137
5 0.827 0.160 17 59841670 3 prime UTR variant A/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs2563298
rs2563298
4 0.851 0.200 5 140631730 3 prime UTR variant C/A snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs9770242
rs9770242
5 0.851 0.240 7 106285885 5 prime UTR variant C/A snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs1429638
rs1429638
2 0.925 0.080 4 73872213 downstream gene variant C/A;G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs4755453
rs4755453
2 0.925 0.080 11 36509094 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs368287711
rs368287711
4 0.851 0.120 11 117989554 missense variant C/A;T snv 2.0E-05; 2.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs11465996
rs11465996
7 0.790 0.240 8 73989727 upstream gene variant C/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2018 2018
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 2014 2014
dbSNP: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2015 2015
dbSNP: rs805305
rs805305
3 0.882 0.120 6 31729610 intron variant C/G snv 0.48 0.010 1.000 1 2018 2018