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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2006 2011
dbSNP: rs450046
rs450046
4 0.851 0.280 22 18913491 missense variant C/T snv 0.93 2.8E-03 0.010 1.000 1 2015 2015