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: rs786200930
rs786200930
2 0.925 0.080 9 127502846 frameshift variant -/GC delins 0.710 1.000 1 2017 2017
dbSNP: rs756880678
rs756880678
2 0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05 0.700 0