GPC4, glypican 4, 2239

N. diseases: 181; N. variants: 8
Disease: Nasodigitoacoustic 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: rs1556022641
rs1556022641 		1.000 0.200 X 133303022 stop gained G/A snv
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1556022644
rs1556022644 		1.000 0.200 X 133303052 stop gained C/A snv
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1556025980
rs1556025980 		1.000 0.200 X 133324154 frameshift variant -/T delins
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1556028269
rs1556028269 		1.000 0.200 X 133339186 frameshift variant C/- del
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1569339879
rs1569339879 		1.000 0.200 X 133303016 frameshift variant -/GCAC delins
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1569341521
rs1569341521 		1.000 0.200 X 133311393 frameshift variant G/- delins
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0