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: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C1857479
Disease: Short columella
Short columella 		0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C0264306
Disease: Laryngeal Obstruction
Laryngeal Obstruction 		0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0