Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569291627
rs1569291627
T 0.700 GeneticVariation CLINVAR Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors. 27369185

2017

dbSNP: rs1569291627
rs1569291627
T 0.700 GeneticVariation CLINVAR Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. 27009485

2016

dbSNP: rs1569291627
rs1569291627
T 0.700 GeneticVariation CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735

2016

dbSNP: rs1569291627
rs1569291627
T 0.700 GeneticVariation CLINVAR Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. 21686261

2010

dbSNP: rs1569291627
rs1569291627
T 0.700 GeneticVariation CLINVAR Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010