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: 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
dbSNP: rs28931614
rs28931614
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
Neoplasms 0.800 0
dbSNP: rs121913101
rs121913101
0.882 0.080 4 1807260 stop lost T/A;C;G snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913103
rs121913103
0.925 0.080 4 1807262 stop gained A/C;G;T snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
Neoplasms 0.700 0
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
0.700 0
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
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 0.700 0
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913114
rs121913114
0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913114
rs121913114
0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913115
rs121913115
1.000 0.120 4 1801928 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs121913479
rs121913479
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
Hypoplasia involving bones of the upper limbs
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
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 0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0456070
Disease: Growth delay
Growth delay
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0426817
Disease: Short ribs
Short ribs
0.700 0