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: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.800 1.000 5 2010 2019
dbSNP: rs2678379
rs2678379
8 1.000 0.080 2 21003688 intron variant A/G snv 0.76 0.800 1.000 5 2012 2019
dbSNP: rs673548
rs673548
14 0.925 0.120 2 21014672 intron variant G/A;T snv 0.800 1.000 4 2012 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 2019
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: rs1041968
rs1041968
6 2 21009932 synonymous variant G/A snv 0.39 0.38 0.700 1.000 2 2018 2019
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.700 1.000 1 2019 2019