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: rs35771982
rs35771982
2 0.925 0.120 2 160028907 missense variant G/C snv 0.39 0.35 0.050 1.000 5 2010 2020
dbSNP: rs2187668
rs2187668
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.040 1.000 4 2013 2018
dbSNP: rs4664308
rs4664308
4 0.851 0.160 2 160060986 intron variant A/G snv 0.30 0.020 1.000 2 2013 2020
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 2008 2008
dbSNP: rs16844715
rs16844715
1 1.000 0.120 2 160058595 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2715918
rs2715918
1 1.000 0.120 2 159976677 splice region variant A/G;T snv 0.82 0.010 1.000 1 2018 2018
dbSNP: rs2715928
rs2715928
1 1.000 0.120 2 160057088 intron variant A/G snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs28383345
rs28383345
1 1.000 0.120 6 32637457 5 prime UTR variant G/A snv 9.4E-02 0.12 0.010 1.000 1 2017 2017
dbSNP: rs3749119
rs3749119
1 1.000 0.120 2 160062509 5 prime UTR variant C/T snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs660895
rs660895
10 0.752 0.360 6 32609603 intergenic variant A/G snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs875
rs875
1 1.000 0.120 2 68180794 3 prime UTR variant A/G;T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs9275224
rs9275224
5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs9275596
rs9275596
7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.010 1.000 1 2017 2017