Gene: FGFR3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913482
rs121913482
FGFR3
0.840 GeneticVariation BEFREE The detection of the R248C mutation in a proportion of blood leukocytes and a slight scoliosis suggest an EN syndrome. 21639936

2011
dbSNP: rs121913482
rs121913482
FGFR3
0.840 GeneticVariation BEFREE Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found. 18642369

2008
dbSNP: rs121913482
rs121913482
FGFR3
0.840 GeneticVariation BEFREE The R248C mutation was found in 6/23 (26.1%) EN but it was absent from unaffected skin. 17255960

2007
dbSNP: rs121913482
rs121913482
FGFR3
0.840 GeneticVariation BEFREE The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. 16841094

2006
dbSNP: rs121913482
rs121913482
FGFR3
T 0.840 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
FGFR3
0.840 GeneticVariation UNIPROT

dbSNP: rs121913479
rs121913479
FGFR3
0.800 GeneticVariation UNIPROT

dbSNP: rs121913479
rs121913479
FGFR3
T 0.800 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
A 0.800 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
0.800 GeneticVariation UNIPROT

dbSNP: rs121913105
rs121913105
FGFR3
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
G 0.700 CausalMutation CLINVAR