Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519635
rs1057519635
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
CUI: C4479250
Disease:
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
0.800 GeneticVariation UNIPROT
dbSNP: rs1057519635
rs1057519635
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
CUI: C4479250
Disease:
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
T 0.800 CausalMutation CLINVAR