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: rs281864801
rs281864801
2 0.925 0.160 17 68527824 splice acceptor variant TTTTTA/- delins 0.700 0
dbSNP: rs727503379
rs727503379
1 1.000 0.120 17 68525826 frameshift variant G/- delins 0.700 1.000 1 2000 2000