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: rs1126485
rs1126485
1.000 0.160 8 38424522 missense variant A/G snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121909635
rs121909635
0.827 0.240 8 38426158 missense variant C/T snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
0.827 0.240 8 38414569 stop gained G/A snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1424371425
rs1424371425
1.000 0.160 8 38461099 frameshift variant -/C delins 7.4E-05 4.2E-05
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199573818
rs199573818
1.000 0.160 8 38417882 missense variant T/C;G snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs267606805
rs267606805
0.851 0.240 8 38414173 missense variant G/T snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs267606806
rs267606806
0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs397515445
rs397515445
0.807 0.280 8 38414263 missense variant T/C snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs753838219
rs753838219
1.000 0.160 8 38419721 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs759233744
rs759233744
1.000 0.160 8 38421899 missense variant G/A snv 1.6E-05
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010