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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs387907201
rs387907201
F2
4 1.000 0.080 11 46739326 missense variant G/A;T snv 0.010 1.000 1 2018 2018