FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Kallmann Syndrome 1 ×
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: rs145315779
rs145315779 		1.000 0.160 8 38429879 missense variant C/T snv 4.0E-06
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		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: rs372654433
rs372654433 		0.925 0.200 8 38418339 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		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: rs374473310
rs374473310 		0.925 0.200 8 38413943 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		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: rs746602135
rs746602135 		0.925 0.160 8 38413746 missense variant C/T snv 3.2E-05 4.9E-05
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		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