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: rs523349
rs523349
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.100 0.690 29 1999 2015
dbSNP: rs9282858
rs9282858
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.100 0.611 18 1999 2017
dbSNP: rs9332964
rs9332964
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.020 1.000 2 2001 2005
dbSNP: rs121434249
rs121434249
4 0.851 0.280 2 31529323 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs2300700
rs2300700
2 0.925 0.080 2 31561922 intron variant G/A snv 0.42 0.010 1.000 1 2016 2016