Gene: EP300 ×
Source: INFERRED ×
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: rs1555910114
rs1555910114
EP300
1 1.000 0.120 22 41157167 splice acceptor variant A/G snv 0.700 0
dbSNP: rs565779970
rs565779970
EP300
2 0.925 0.120 22 41158483 stop gained T/A;C snv 3.2E-05 0.700 0