Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs1057518788
rs1057518788
DSG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167422
rs1114167422
DKC1 ; SNORA56
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1182196436
rs1182196436
DSG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs761241711
rs761241711
DSG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs60399023
rs60399023
KRT14
0.010 GeneticVariation BEFREE A 26-year-old woman with mild DM-EBS with prominent palmoplantar hyperkeratosis and without active blister formation had a novel R125G mutation in keratin 14. 14987259

2004