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: rs2245220
rs2245220
3 0.882 0.160 20 4725072 missense variant C/G;T snv 4.1E-06; 0.46 0.52 0.010 < 0.001 1 2004 2004
dbSNP: rs35453518
rs35453518
1 1.000 0.120 20 4724718 missense variant C/A;T snv 8.0E-06; 8.1E-03 0.010 1.000 1 2004 2004
dbSNP: rs41279424
rs41279424
1 1.000 0.120 20 4724628 missense variant C/A;T snv 2.4E-05; 2.0E-02 0.010 1.000 1 2004 2004