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: rs1057518777
rs1057518777
2 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 0.700 0
dbSNP: rs864309508
rs864309508
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0