Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913482
rs121913482
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
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
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
0.840 GeneticVariation BEFREE The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. 16841094

2006

dbSNP: rs121913482
rs121913482
T 0.840 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
0.840 GeneticVariation UNIPROT

dbSNP: rs121913237
rs121913237
0.800 GeneticVariation UNIPROT Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 22499344

2012

dbSNP: rs397514553
rs397514553
0.800 GeneticVariation UNIPROT Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 22499344

2012

dbSNP: rs11554290
rs11554290
0.800 GeneticVariation UNIPROT

dbSNP: rs11554290
rs11554290
C 0.800 CausalMutation CLINVAR

dbSNP: rs121913237
rs121913237
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913479
rs121913479
0.800 GeneticVariation UNIPROT

dbSNP: rs121913479
rs121913479
T 0.800 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
A 0.800 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
0.800 GeneticVariation UNIPROT

dbSNP: rs397514553
rs397514553
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894229
rs104894229
0.710 GeneticVariation BEFREE A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. 30864170

2019

dbSNP: rs121913529
rs121913529
0.710 GeneticVariation BEFREE An oncogenic G12D KRAS mutation was detected in both the epidermal component of the EN and in the rhabdomyosarcoma but not in the dermal component of the EN lesion or in unaffected tissues, including normal skin or blood. 20805368

2010

dbSNP: rs121913274
rs121913274
0.710 GeneticVariation BEFREE Nine of 33 (27%) EN harbored PIK3CA mutations; all cases showed the E545G substitution, which is uncommon in cancers. 17673550

2007

dbSNP: rs104894229
rs104894229
A 0.710 CausalMutation CLINVAR

dbSNP: rs121913274
rs121913274
G 0.710 CausalMutation CLINVAR

dbSNP: rs121913529
rs121913529
T 0.710 CausalMutation CLINVAR

dbSNP: rs104894228
rs104894228
G 0.700 CausalMutation CLINVAR

dbSNP: rs104894228
rs104894228
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894230
rs104894230
A 0.700 CausalMutation CLINVAR