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: rs2178077
rs2178077
1 1.000 0.080 12 130895928 intergenic variant G/A snv 8.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs3888722
rs3888722
1 1.000 0.080 6 29771223 intergenic variant C/G snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs11084332
rs11084332
1 1.000 0.080 19 54369204 intron variant T/C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1805672
rs1805672
1 1.000 0.080 12 9010581 3 prime UTR variant A/G snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1865097
rs1865097
1 1.000 0.080 19 54885805 intron variant G/A snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs2287828
rs2287828
1 1.000 0.080 19 54502908 5 prime UTR variant G/A snv 9.0E-02 5.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs2294021
rs2294021
8 0.776 0.280 X 49249149 intron variant T/A;C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs35336528
rs35336528
1 1.000 0.080 19 54456859 missense variant A/G snv 3.2E-02 2.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3761549
rs3761549
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs56802430
rs56802430
1 1.000 0.080 19 54366807 intron variant A/G snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs70993900
rs70993900
3 0.882 0.080 6 32618381 intergenic variant C/- delins 4.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs861256
rs861256
1 1.000 0.080 11 33725787 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs9469220
rs9469220
5 0.827 0.160 6 32690533 TF binding site variant G/A snv 0.53 0.010 1.000 1 2019 2019