FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
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: rs121909627
rs121909627
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.850 1.000 11 1994 2014
dbSNP: rs779707422
rs779707422
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06
Encephalocraniocutaneous lipomatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.820 1.000 2 2016 2019
dbSNP: rs869320694
rs869320694
0.742 0.520 8 38414790 missense variant T/C snv
Encephalocraniocutaneous lipomatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.810 1.000 3 2009 2018
dbSNP: rs1554570706
rs1554570706
0.925 0.200 8 38429808 missense variant G/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 16 2003 2017
dbSNP: rs121909628
rs121909628
0.925 0.160 8 38414892 stop gained G/A;C snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 15 2003 2015
dbSNP: rs121909635
rs121909635
0.827 0.240 8 38426158 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 15 2003 2015
dbSNP: rs121909637
rs121909637
0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 15 2003 2015
dbSNP: rs121909640
rs121909640
0.925 0.160 8 38429898 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 15 2003 2015
dbSNP: rs121909641
rs121909641
0.763 0.520 8 38419720 missense variant G/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 15 2003 2015
dbSNP: rs121909644
rs121909644
0.925 0.160 8 38413795 missense variant C/A;T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 15 2003 2015
dbSNP: rs121909645
rs121909645
0.925 0.240 8 38424696 missense variant C/G;T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 15 2003 2015
dbSNP: rs121909631
rs121909631
0.827 0.280 8 38419696 missense variant T/C snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2005 2006
dbSNP: rs121909632
rs121909632
1.000 0.080 8 38421889 missense variant T/A;C snv 4.0E-06
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2005 2006
dbSNP: rs121909634
rs121909634
1.000 0.080 8 38419676 missense variant A/G snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2005 2006
dbSNP: rs397515481
rs397515481
1.000 0.280 8 38428048 missense variant A/G snv
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2014
dbSNP: rs398122945
rs398122945
1.000 0.280 8 38414164 missense variant C/T snv
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2014
dbSNP: rs398122946
rs398122946
1.000 0.280 8 38414889 missense variant C/A snv
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2014
dbSNP: rs869025669
rs869025669
1.000 0.280 8 38427970 missense variant A/G snv
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2014
dbSNP: rs869025670
rs869025670
1.000 0.280 8 38417954 missense variant C/G;T snv
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2014
dbSNP: rs869025671
rs869025671
1.000 0.280 8 38414876 missense variant C/G snv
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2014
dbSNP: rs869025672
rs869025672
0.925 0.320 8 38414872 missense variant A/C;G snv 8.0E-06
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2014
dbSNP: rs121909627
rs121909627
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2000 2000
dbSNP: rs121909629
rs121909629
0.882 0.200 8 38415905 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 15 2003 2015
dbSNP: rs121909630
rs121909630
0.925 0.160 8 38428043 missense variant C/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 15 2003 2015
dbSNP: rs121909638
rs121909638
0.882 0.280 8 38421853 missense variant A/G snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 15 2003 2015