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: rs28931614
rs28931614
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.900 0.981 53 1994 2020
dbSNP: rs4647924
rs4647924
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.900 0.933 15 1997 2019
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: rs28931615
rs28931615
0.732 0.240 4 1804426 missense variant C/A;T snv
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.870 1.000 12 1995 2019
dbSNP: rs75790268
rs75790268
0.925 0.120 4 1804377 missense variant G/T snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.850 1.000 10 1994 2012
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.850 1.000 5 1999 2018
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.840 1.000 10 1995 2016
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
Neoplasms 0.840 1.000 4 2006 2011
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.830 0.889 9 1995 2011
dbSNP: rs121913485
rs121913485
0.716 0.400 4 1804372 missense variant A/G snv
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.820 1.000 8 1995 2008
dbSNP: rs121913483
rs121913483
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.820 1.000 4 1999 2019
dbSNP: rs121913483
rs121913483
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 7 1995 2016
dbSNP: rs121913479
rs121913479
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 6 1995 1999
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 0.962 26 1996 2020
dbSNP: rs4647924
rs4647924
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0.944 18 1997 2016
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 6 1994 2002
dbSNP: rs121913484
rs121913484
0.851 0.240 4 1804365 missense variant A/T snv
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 6 1995 1999
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
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
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 2 1999 2001
dbSNP: rs121913112
rs121913112
1.000 0.280 4 1805561 missense variant G/A;C snv 4.8E-05; 4.0E-06
Lacrimoauriculodentodigital syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2006 2006
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: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
Skin and Connective Tissue Diseases 0.800 1.000 1 2005 2005
dbSNP: rs121913483
rs121913483
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
Skin and Connective Tissue Diseases 0.800 1.000 1 2005 2005
dbSNP: rs121913111
rs121913111
1.000 0.080 4 1803725 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.800 0
dbSNP: rs121913479
rs121913479
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
Neoplasms 0.800 0