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: rs3733591
rs3733591
2 0.925 0.040 4 9920506 missense variant C/T snv 0.25 0.17 0.020 1.000 2 2010 2011
dbSNP: rs2231137
rs2231137
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2014 2014