rs1567263168, CREBBP

N. diseases: 10
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.
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
Cerebral white matter atrophy
CUI: C4022735
Disease: Cerebral white matter atrophy
11 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
14 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0