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: rs398123053
rs398123053
1 1.000 16 57248570 missense variant T/C;G snv 2.1E-05 0.800 0
dbSNP: rs199830550
rs199830550
2 1.000 16 57248644 splice donor variant G/A;C;T snv 1.2E-04; 4.6E-06; 4.6E-06 0.700 0
dbSNP: rs879255568
rs879255568
2 0.925 0.080 16 57248536 splice acceptor variant G/A;C snv 0.700 0