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: rs753056119
rs753056119
1 1.000 0.080 20 44424348 frameshift variant C/- delins 0.010 1.000 1 2019 2019