Gene: FGFR1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13317
rs13317
FGFR1
A 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017
dbSNP: rs397515445
rs397515445
FGFR1
0.010 GeneticVariation BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944

2015