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: rs1554182514
rs1554182514
1 1.000 0.120 5 177994291 frameshift variant -/C delins 0.700 0
dbSNP: rs1554182632
rs1554182632
1 1.000 0.120 5 177995858 frameshift variant -/TC delins 0.700 0
dbSNP: rs587776681
rs587776681
1 1.000 0.120 5 177994297 frameshift variant TC/- delins 0.700 0
dbSNP: rs762529663
rs762529663
1 1.000 0.120 5 177992833 frameshift variant G/- del 4.0E-06 0.700 0
dbSNP: rs794726693
rs794726693
1 1.000 0.120 5 177994174 stop gained G/A snv 0.700 0