FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Split-Hand/Foot Malformation ×
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: rs121909637
rs121909637 		0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019