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: rs1057519624
rs1057519624
RPS7
1 1.000 0.080 2 3575816 splice acceptor variant G/T snv 0.700 0
dbSNP: rs397507554
rs397507554
RPS7
2 0.925 0.080 2 3575889 splice donor variant G/A snv 0.700 0