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: rs1367117
rs1367117
5 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.800 1.000 7 2010 2019
dbSNP: rs693
rs693
4 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.800 1.000 5 2007 2019
dbSNP: rs676210
rs676210
5 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.800 1.000 3 2012 2018
dbSNP: rs1041968
rs1041968
4 2 21009932 synonymous variant G/A snv 0.39 0.38 0.800 1.000 2 2012 2019
dbSNP: rs10199768
rs10199768
1 2 21021128 intron variant G/T snv 0.35 0.800 1.000 1 2011 2012
dbSNP: rs1042034
rs1042034
6 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.800 1.000 1 2012 2018
dbSNP: rs12713956
rs12713956
3 2 21018633 intron variant A/G snv 0.14 0.800 1.000 1 2012 2019
dbSNP: rs2678379
rs2678379
5 1.000 0.080 2 21003688 intron variant A/G snv 0.76 0.800 1.000 1 2012 2018
dbSNP: rs533617
rs533617
4 2 21011100 missense variant T/C snv 3.1E-02 2.9E-02 0.800 1.000 1 2012 2018
dbSNP: rs5742904
rs5742904
1 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 1 2012 2014
dbSNP: rs673548
rs673548
7 0.925 0.120 2 21014672 intron variant G/A;T snv 0.800 1.000 1 2012 2018
dbSNP: rs57825321
rs57825321
2 2 21024193 3 prime UTR variant T/A snv 4.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs72653060
rs72653060
1 2 21034825 missense variant A/C snv 9.9E-05 5.0E-04 0.700 1.000 1 2018 2018