Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372754256
rs372754256
C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013

dbSNP: rs372754256
rs372754256
C 0.700 CausalMutation CLINVAR De novo gene disruptions in children on the autistic spectrum. 22542183

2012

dbSNP: rs372754256
rs372754256
C 0.700 CausalMutation CLINVAR Filaggrin gene defects and the risk of developing allergic disorders. 21173567

2011

dbSNP: rs372754256
rs372754256
C 0.700 CausalMutation CLINVAR Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. 17417636

2007

dbSNP: rs372754256
rs372754256
C 0.700 CausalMutation CLINVAR Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. 16444271

2006

dbSNP: rs372754256
rs372754256
C 0.700 CausalMutation CLINVAR Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. 20790920

1966