FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
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: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.890 0.909 11 1995 2018
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.060 1.000 6 1995 2013
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.720 0.833 6 1998 2011
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.050 1.000 5 1995 2013
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.710 1.000 3 1999 2001
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.730 1.000 3 2000 2011
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 2 1999 2001
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2001 2007
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
Skin and Connective Tissue Diseases 0.720 1.000 2 2007 2011
dbSNP: rs77722678
rs77722678
1.000 0.120 4 1805643 missense variant A/C;G snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.710 1.000 1 2000 2000
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.710 1.000 1 2011 2011
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2001 2001
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma
Neoplasms; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system
Musculoskeletal Diseases 0.010 1.000 1 2003 2003
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2000 2000