Source: ALL
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: rs1554918032
rs1554918032
HBB
1 1.000 0.080 11 5226800 splice acceptor variant CTAAGGGTGGGAAAATA/- del 0.700 0