Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690805
rs1131690805
H1-4 ; H2BC5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CG 0.700 GeneticVariation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs1131690805
rs1131690805
H1-4 ; H2BC5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CG 0.700 GeneticVariation CLINVAR Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing. 25081361

2015
dbSNP: rs1131690805
rs1131690805
H1-4 ; H2BC5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CG 0.700 GeneticVariation CLINVAR H1 histones: current perspectives and challenges. 23945933

2013