rs797044860, CREBBP

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.120 16 3736801 missense variant T/C snv 0.700 1.000 18 1963 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.120 16 3736801 missense variant T/C snv 0.700 1.000 18 1963 2017
RUBINSTEIN-TAYBI SYNDROME 1
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
39 0.925 0.120 16 3736801 missense variant T/C snv 0.700 0