FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 330; N. variants: 67
Disease: Semilobar Holoprosencephaly ×
Source: INFERRED ×
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: rs876661334
rs876661334 		0.925 0.240 8 38414778 splice donor variant C/T snv
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0