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: rs1564228101
rs1564228101
1 1.000 9 98790247 frameshift variant -/TCCAAGCCGCCCAGTGAGTGCGGCC delins 0.700 0
dbSNP: rs369437168
rs369437168
1 1.000 9 98778412 stop gained G/A snv 8.0E-06 2.3E-04 0.700 0
dbSNP: rs397514257
rs397514257
1 1.000 9 98768253 splice region variant G/C snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs397514258
rs397514258
1 1.000 9 98736625 splice acceptor variant T/G snv 0.700 0
dbSNP: rs587777024
rs587777024
1 1.000 9 98768159 frameshift variant CTTGACCGATG/- delins 0.700 0
dbSNP: rs587777025
rs587777025
1 1.000 9 98751051 stop gained GAT/- delins 3.5E-05 0.700 0
dbSNP: rs756090222
rs756090222
1 1.000 9 98790239 stop gained G/A;C snv 4.0E-06 0.700 0