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
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.800 1.000 8 2010 2019
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.800 1.000 7 2007 2019
dbSNP: rs676210
rs676210
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.800 1.000 4 2012 2018
dbSNP: rs1041968
rs1041968
6 2 21009932 synonymous variant G/A snv 0.39 0.38 0.800 1.000 3 2012 2019
dbSNP: rs12713956
rs12713956
4 2 21018633 intron variant A/G snv 0.14 0.800 1.000 3 2012 2019
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 3 2012 2014
dbSNP: rs10199768
rs10199768
5 2 21021128 intron variant G/T snv 0.35 0.800 1.000 2 2011 2012
dbSNP: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.800 1.000 2 2012 2018
dbSNP: rs2678379
rs2678379
8 1.000 0.080 2 21003688 intron variant A/G snv 0.76 0.800 1.000 2 2012 2018
dbSNP: rs533617
rs533617
6 2 21011100 missense variant T/C snv 3.1E-02 2.9E-02 0.800 1.000 2 2012 2018
dbSNP: rs673548
rs673548
14 0.925 0.120 2 21014672 intron variant G/A;T snv 0.800 1.000 2 2012 2018
dbSNP: rs934197
rs934197
3 2 21044589 upstream gene variant G/A snv 0.25 0.700 1.000 2 2012 2012
dbSNP: rs1042031
rs1042031
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.700 1.000 1 2012 2012
dbSNP: rs12691202
rs12691202
3 2 21026844 missense variant C/T snv 2.7E-02 2.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs12720826
rs12720826
3 2 21042823 intron variant T/C snv 3.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs12720828
rs12720828
3 2 21018872 intron variant C/T snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs12720838
rs12720838
3 2 21024339 3 prime UTR variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1800479
rs1800479
4 2 21004511 intron variant C/G snv 0.16 0.17 0.700 1.000 1 2012 2012
dbSNP: rs1800481
rs1800481
3 2 21044338 upstream gene variant A/G snv 0.82 0.700 1.000 1 2012 2012
dbSNP: rs2854725
rs2854725
3 2 21014914 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs3749054
rs3749054
3 2 21014366 intron variant A/T snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs520354
rs520354
4 2 21036740 intron variant A/G snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs531819
rs531819
3 2 21040767 intron variant T/G snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs550619
rs550619
3 2 21037729 intron variant G/A snv 0.86 0.700 1.000 1 2012 2012
dbSNP: rs570877
rs570877
3 2 21028168 intron variant T/G snv 0.87 0.700 1.000 1 2012 2012