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: rs1060499663
rs1060499663 		1.000 0.160 8 38416013 frameshift variant C/- delins
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 0
dbSNP: rs1085307879
rs1085307879 		1.000 0.160 8 38414183 missense variant T/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 0.700 0
dbSNP: rs1131691929
rs1131691929 		1.000 0.160 8 38424628 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 0
dbSNP: rs121909628
rs121909628 		0.925 0.160 8 38414892 stop gained G/A;C snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.700 0
dbSNP: rs121909628
rs121909628 		0.925 0.160 8 38414892 stop gained G/A;C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs121909629
rs121909629 		0.882 0.200 8 38415905 missense variant C/T snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909630
rs121909630 		0.925 0.160 8 38428043 missense variant C/A snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909636
rs121909636 		0.827 0.240 8 38414569 stop gained G/A snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs121909636
rs121909636 		0.827 0.240 8 38414569 stop gained 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 0.700 0
dbSNP: rs121909638
rs121909638 		0.882 0.280 8 38421853 missense variant A/G snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909639
rs121909639 		0.925 0.160 8 38415899 stop gained 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 0.700 0
dbSNP: rs121909639
rs121909639 		0.925 0.160 8 38415899 stop gained G/A snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.700 0
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
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 0.700 0
dbSNP: rs121909642
rs121909642 		0.925 0.160 8 38414174 missense variant G/A snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909643
rs121909643 		1.000 0.160 8 38413918 missense variant C/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 0
dbSNP: rs121909645
rs121909645 		0.925 0.240 8 38424696 missense variant C/G;T snv
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121913473
rs121913473 		1.000 0.080 8 38428420 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C3165106
Disease: Infiltrating duct carcinoma of female breast
Infiltrating duct carcinoma of female breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554548253
rs1554548253 		1.000 0.280 8 38414835 missense variant C/T snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
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 0.700 0