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: rs121434244
rs121434244
2 1.000 0.200 2 31526225 missense variant G/A snv 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs267599353
rs267599353
3 0.925 0.200 2 31533741 stop gained G/A;T snv 2.2E-05; 9.5E-05 0.010 1.000 1 2012 2012