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: rs2723341
rs2723341
8 0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 0.700 0
dbSNP: rs750740765
rs750740765
1 1.000 0.080 15 71812486 frameshift variant TC/- delins 1.2E-05 7.0E-06 0.700 0