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: rs1555283482
rs1555283482
RB1
1 1.000 0.080 13 48347833 frameshift variant A/- delins 0.700 0