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: rs587778776
rs587778776 		1.000 0.120 4 1804396 missense variant T/A;G snv 1.2E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913101
rs121913101 		0.882 0.080 4 1807260 stop lost T/A;C;G snv
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.720 1.000 2 2017 2019
dbSNP: rs121913101
rs121913101 		0.882 0.080 4 1807260 stop lost T/A;C;G snv
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
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: rs17881656
rs17881656 		0.925 0.240 4 1804404 missense variant T/A;C snv 8.0E-06; 3.3E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs17881656
rs17881656 		0.925 0.240 4 1804404 missense variant T/A;C snv 8.0E-06; 3.3E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17881656
rs17881656 		0.925 0.240 4 1804404 missense variant T/A;C snv 8.0E-06; 3.3E-03
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
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: rs75790268
rs75790268 		0.925 0.120 4 1804377 missense variant G/T snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.020 1.000 2 1999 2012
dbSNP: rs121913480
rs121913480 		1.000 0.120 4 1806604 missense variant G/T snv
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: rs121913480
rs121913480 		1.000 0.120 4 1806604 missense variant G/T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs397515514
rs397515514 		0.925 0.080 4 1807261 stop lost 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: rs397515514
rs397515514 		0.925 0.080 4 1807261 stop lost G/T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs587778811
rs587778811 		1.000 0.120 4 1801896 synonymous variant G/T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs28928868
rs28928868 		0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 2000 2010
dbSNP: rs28928868
rs28928868 		0.925 0.120 4 1806164 missense variant G/C;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: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 6 1995 1999
dbSNP: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.020 1.000 2 1999 2002
dbSNP: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 1999 2001
dbSNP: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T 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 2 2009 2014
dbSNP: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1448843898
rs1448843898 		1.000 0.120 4 1805608 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015