Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913348
rs121913348
BRAF
T 0.700 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506

2005
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs180177035
rs180177035
BRAF
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507478
rs397507478
BRAF
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397507483
rs397507483
BRAF
A 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR