FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: CATSHL 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: rs121913113
rs121913113 		0.882 0.240 4 1806076 missense variant G/A snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116 		0.763 0.360 4 1799395 missense variant C/T snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL 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 2006 2006
dbSNP: rs121913105
rs121913105 		0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121913482
rs121913482 		0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121913483
rs121913483 		0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs28931614
rs28931614 		0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs28933068
rs28933068 		0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs4647924
rs4647924 		0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587777857
rs587777857 		1.000 0.200 4 1805661 missense variant C/A;T snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs774517056
rs774517056 		1.000 0.200 4 1807128 missense variant C/G;T snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0