Gene: EP300 ×
Source: CLINVAR ×
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: rs28937578
rs28937578
EP300 ; EP300-AS1
1 1.000 0.080 22 41178373 missense variant C/A;T snv 8.0E-06 0.800 0
dbSNP: rs1569118537
rs1569118537
EP300
2 0.925 0.200 22 41172631 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs137853038
rs137853038
EP300
1 1.000 0.080 22 41137768 stop gained C/T snv 0.700 0
dbSNP: rs1555909666
rs1555909666
EP300
2 0.925 0.200 22 41151998 stop gained G/T snv 0.700 0