Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556861311
rs1556861311
IQSEC2
T 0.700 GeneticVariation CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735

2016
dbSNP: rs1556861311
rs1556861311
IQSEC2
T 0.700 GeneticVariation CLINVAR Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs1556861311
rs1556861311
IQSEC2
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