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: rs1057519601
rs1057519601
2 0.925 0.120 17 18171764 frameshift variant G/CCAGGCCCGTGCAGCTC delins 0.700 0
dbSNP: rs1057519603
rs1057519603
2 0.925 0.120 17 18126856 missense variant T/C snv 0.700 0
dbSNP: rs1057519604
rs1057519604
2 0.925 0.120 17 18148937 frameshift variant G/- delins 0.700 0
dbSNP: rs1057519606
rs1057519606
2 0.925 0.120 17 18159349 splice donor variant T/C snv 0.700 0
dbSNP: rs1057519607
rs1057519607
2 0.925 0.120 17 18178843 frameshift variant -/C delins 0.700 0
dbSNP: rs878854415
rs878854415
2 0.925 0.120 17 18144495 splice acceptor variant A/G snv 0.700 0