Disease: Forney Robinson Pascoe 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: rs886039235
rs886039235 		6 90561637 missense variant C/A snv
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.800 1.000 1 2016 2016
dbSNP: rs886039237
rs886039237 		6 90553473 missense variant A/C;T snv
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.800 1.000 1 2016 2016
dbSNP: rs886039234
rs886039234 		6 90571793 inframe deletion TCTTCC/- delins
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886039236
rs886039236 		6 90571778 inframe deletion AAC/- delins
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0