FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs528376963
rs528376963
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0079541
Disease:
Holoprosencephaly
T 0.700 CausalMutation CLINVAR
dbSNP: rs876661335
rs876661335
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0079541
Disease:
Holoprosencephaly
T 0.700 GeneticVariation CLINVAR