Disease: Barber Say syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553565140
rs1553565140 		0.925 0.240 2 238848438 missense variant G/A;C snv
CUI: C1319466
Disease: Barber Say syndrome
Barber Say syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1553565143
rs1553565143 		1.000 0.240 2 238848439 missense variant A/C snv
CUI: C1319466
Disease: Barber Say syndrome
Barber Say syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs869320750
rs869320750 		1.000 0.240 2 238848438 inframe insertion -/CAGCGC delins
CUI: C1319466
Disease: Barber Say syndrome
Barber Say syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0