Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554709792
rs1554709792
NFIB
CUI: C4748993
Disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 		A 0.700 CausalMutation CLINVAR NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. 30388402

2018