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: C0013336
Disease: Dwarfism
Dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.060 1.000 6 1999 2016
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: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.020 0.500 2 1998 1998
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: rs1211533350
rs1211533350
0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121913485
rs121913485
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0013336
Disease: Dwarfism
Dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
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
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: rs751213196
rs751213196
1.000 0.120 4 1805602 missense variant G/A;T snv 1.2E-05; 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
dbSNP: rs80053154
rs80053154
0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 1998 1998