FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Delayed Puberty ×
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: 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: 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: rs727505369
rs727505369 		0.925 0.160 8 38424624 missense variant T/C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs727505370
rs727505370 		1.000 0.040 8 38414840 missense variant A/G snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs727505371
rs727505371 		1.000 0.040 8 38421840 frameshift variant AG/- delins 4.0E-06
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs727505373
rs727505373 		0.925 0.160 8 38429744 missense variant T/C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0