Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352970
rs483352970
CDKN1C
0.700 GeneticVariation UNIPROT Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 26077438

2015
dbSNP: rs483352970
rs483352970
CDKN1C
0.700 GeneticVariation UNIPROT Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 10424811

1999