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: rs1057518845
rs1057518845
5 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1057518928
rs1057518928
3 1.000 0.040 12 23665471 missense variant G/A snv 0.700 0