Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553251507
rs1553251507
TGGAGG 0.700 CausalMutation CLINVAR Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. 28211990

2017

dbSNP: rs1553251507
rs1553251507
TGGAGG 0.700 CausalMutation CLINVAR PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. 28334956

2017

dbSNP: rs1553253812
rs1553253812
A 0.700 CausalMutation CLINVAR PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. 28334956

2017

dbSNP: rs1553253812
rs1553253812
A 0.700 CausalMutation CLINVAR Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. 28211990

2017

dbSNP: rs1553251507
rs1553251507
TGGAGG 0.700 CausalMutation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891

2015

dbSNP: rs1553253812
rs1553253812
A 0.700 CausalMutation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891

2015

dbSNP: rs1553251507
rs1553251507
TGGAGG 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012

dbSNP: rs1553253812
rs1553253812
A 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012