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 2017 2017
dbSNP: rs373611092
rs373611092
5 0.925 0.160 22 19962794 missense variant A/G snv 8.4E-05 4.9E-05 0.010 1.000 1 2013 2013