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: rs730880147
rs730880147
1 1.000 16 15726938 inframe deletion CTT/- delins 4.8E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs1555459260
rs1555459260
2 0.925 0.040 16 15838252 start lost T/C snv 0.700 0
dbSNP: rs267606902
rs267606902
2 0.925 0.080 16 15748092 missense variant C/T snv 0.700 0
dbSNP: rs794728677
rs794728677
1 1.000 16 15721419 splice donor variant -/A delins 0.700 0