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: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.020 1.000 2 2013 2015
dbSNP: rs3741981
rs3741981
3 0.882 0.120 12 112911065 missense variant G/A;C snv 0.020 1.000 2 2013 2015
dbSNP: rs2660
rs2660
4 0.851 0.160 12 112919637 missense variant G/A snv 0.71 0.75 0.010 1.000 1 2013 2013