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: rs1131690882
rs1131690882
RB1
2 1.000 0.080 13 48465112 splice donor variant G/A;C snv 0.700 1.000 4 2005 2017