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: rs2235371
rs2235371
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.730 0.750 4 2009 2019
dbSNP: rs2013162
rs2013162
5 0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs2235375
rs2235375
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2018 2018