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: rs12106331
rs12106331
1 21 37354975 intron variant A/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2835702
rs2835702
1 21 37352009 intron variant T/C snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs346425
rs346425
1 5 63300417 upstream gene variant T/C snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.030 1.000 3 1998 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2014 2015
dbSNP: rs1042778
rs1042778
3 0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11215217
rs11215217
1 11 114818979 intergenic variant C/T snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs11941860
rs11941860
2 1.000 0.080 4 46080161 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs17689918
rs17689918
6 0.851 0.080 17 45832722 intron variant G/A snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs2119183
rs2119183
2 1.000 0.080 4 46270789 intron variant G/A snv 7.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs3756007
rs3756007
2 1.000 0.080 4 46389047 5 prime UTR variant T/C snv 5.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs4564970
rs4564970
1 3 8768722 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs4714329
rs4714329
1 6 40305718 intergenic variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs536599
rs536599
2 1.000 0.080 4 46196917 intergenic variant G/T snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs7632287
rs7632287
2 1.000 0.040 3 8749760 intron variant G/A snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs9471290
rs9471290
1 6 40292776 intergenic variant G/A snv 0.38 0.010 1.000 1 2019 2019