Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989799
rs875989799
0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015

dbSNP: rs875989799
rs875989799
0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010

dbSNP: rs875989799
rs875989799
A 0.800 CausalMutation CLINVAR