Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045141
rs797045141
HERC1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		G 0.700 GeneticVariation CLINVAR A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. 27108999

2016