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: rs1060499590
rs1060499590
1 1.000 0.160 X 21737698 splice acceptor variant C/T snv 0.700 1.000 2 2011 2011
dbSNP: rs387906706
rs387906706
1 1.000 0.160 X 21737655 stop gained C/A snv 0.700 0
dbSNP: rs387906707
rs387906707
1 1.000 0.160 X 21743773 stop gained C/A snv 0.700 0
dbSNP: rs387906708
rs387906708
1 1.000 0.160 X 21737616 stop gained C/A snv 0.700 0
dbSNP: rs398122848
rs398122848
1 1.000 0.160 X 21743752 frameshift variant C/- delins 0.700 0
dbSNP: rs398122930
rs398122930
1 1.000 0.160 X 21743783 frameshift variant G/-;GG delins 0.700 0