CUL7, cullin 7, 9820

N. diseases: 90; N. variants: 12
Source: ALL
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: C0221354
Disease:
Frontal bossing
T 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019