Gene: FGFR1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779707422
rs779707422
FGFR1
0.820 GeneticVariation UNIPROT

dbSNP: rs869320694
rs869320694
FGFR1
0.810 GeneticVariation UNIPROT Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each. 26942290

2016
dbSNP: rs869320694
rs869320694
FGFR1
0.810 GeneticVariation UNIPROT The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations. 19224897

2009