rs1559662068, BRPF1

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.
Abnormality of aortic arch
CUI: C3163801
Disease: Abnormality of aortic arch
1 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
14 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
Laryngeal Obstruction
CUI: C0264306
Disease: Laryngeal Obstruction
2 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
12 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
Shallow orbits
CUI: C1865244
Disease: Shallow orbits
4 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
Short columella
CUI: C1857479
Disease: Short columella
5 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.925 3 9741340 frameshift variant AG/T delins 0.700 0