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: rs587777704
rs587777704
2 0.925 2 190976881 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs587777705
rs587777705
2 0.925 2 190976990 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2014 2014