Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223403
rs863223403
HNRNPK
T 0.700 CausalMutation CLINVAR GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. 26173930

2015
dbSNP: rs863223403
rs863223403
HNRNPK
T 0.700 GeneticVariation CLINVAR