Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561892336
rs1561892336
Entrez Id: 9820;89953
Gene Symbol: CUL7;KLC4
CUL7;KLC4
CUI: C1835884
Disease:
Triangular face
T 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019