Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1468772495
rs1468772495
C12orf4
0.800 GeneticVariation UNIPROT Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. 28097321

2017
dbSNP: rs1468772495
rs1468772495
C12orf4
0.800 GeneticVariation UNIPROT Identification of C12orf4 as a gene for autosomal recessive intellectual disability. 27311568

2017
dbSNP: rs1468772495
rs1468772495
C12orf4
0.800 GeneticVariation UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065

2015
dbSNP: rs1468772495
rs1468772495
C12orf4
G 0.800 CausalMutation CLINVAR