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: rs1569306667
rs1569306667
1 1.000 0.080 X 53256062 splice acceptor variant C/T snv 0.700 0
dbSNP: rs782460038
rs782460038
1 1.000 0.080 X 53255945 frameshift variant G/- delins 0.700 0
dbSNP: rs782660318
rs782660318
1 1.000 0.080 X 53255951 frameshift variant C/- delins 0.700 0
dbSNP: rs797045140
rs797045140
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016