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: rs12730935
rs12730935
1 1 154447416 intron variant G/A snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs12741825
rs12741825
3 1 159700355 downstream gene variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs669408
rs669408
2 1 232383404 regulatory region variant A/C snv 0.52 0.700 1.000 1 2010 2010
dbSNP: rs10211524
rs10211524
4 2 64980940 intron variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs1047891
rs1047891
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.700 1.000 1 2010 2010
dbSNP: rs560887
rs560887
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.700 1.000 1 2016 2016
dbSNP: rs113341849
rs113341849
1 3 46342713 intergenic variant G/A snv 7.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs115463265
rs115463265
1 3 24883579 intron variant C/T snv 2.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs2228467
rs2228467
8 1.000 0.080 3 42864624 missense variant T/C snv 5.1E-02 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs41272321
rs41272321
2 3 132619502 missense variant T/C;G snv 8.6E-06; 0.11 0.700 1.000 1 2018 2018
dbSNP: rs4303899
rs4303899
1 3 117682524 intron variant A/G snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs75885714
rs75885714
7 3 16901018 intron variant A/C snv 4.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs1562064
rs1562064
2 4 145391948 intergenic variant G/A snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs16850073
rs16850073
5 4 73838282 3 prime UTR variant C/T snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs184650103
rs184650103
2 4 73984932 upstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1986734
rs1986734
3 1.000 0.120 4 76499631 intron variant C/T snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs28645201
rs28645201
2 4 90607776 intron variant A/G snv 3.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs34226052
rs34226052
2 4 88242371 intergenic variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs3733402
rs3733402
5 1.000 0.040 4 186236880 missense variant G/A;C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs9637599
rs9637599
3 4 88285078 intron variant A/C snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs17159338
rs17159338
2 5 106942471 intron variant T/C snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs2731672
rs2731672
6 5 177415473 intron variant T/C snv 0.66 0.700 1.000 1 2016 2016