Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs875989807
rs875989807
EP300 ; EP300-AS1
0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.700 0