Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs180177038
rs180177038
BRAF
T 0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs180177038
rs180177038
BRAF
T 0.700 GeneticVariation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs180177038
rs180177038
BRAF
T 0.700 GeneticVariation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs1232880706
rs1232880706
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs66527965
rs66527965
COL1A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs760805
rs760805
RUNX3 ; LOC107984932
0.010 GeneticVariation BEFREE Compared with rs760805 TT homozygote carriers, patients carrying AA homozygote exhibited significantly reduced 24 hours urinary protein levels, lower serum creatinine concentrations and a decreased incidence of neonatal asphyxia (P <.05).The present study suggested a genetic association between RUNX3 gene polymorphisms and SPE. 30896667

2019