IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607187
rs267607187
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
dbSNP: rs267607187
rs267607187
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
dbSNP: rs267607187
rs267607187
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267607188
rs267607188
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
dbSNP: rs267607188
rs267607188
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267607188
rs267607188
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
dbSNP: rs267607189
rs267607189
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267607189
rs267607189
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
dbSNP: rs267607189
rs267607189
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
dbSNP: rs875989799
rs875989799
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
dbSNP: rs875989799
rs875989799
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
dbSNP: rs875989799
rs875989799
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057518993
rs1057518993
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C0004352
Disease:
Autistic Disorder 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057520858
rs1057520858
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060499660
rs1060499660
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1064795512
rs1064795512
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs1556858912
rs1556858912
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		TTGGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1556859744
rs1556859744
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1556861311
rs1556861311
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 GeneticVariation CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735 2016
dbSNP: rs1556861311
rs1556861311
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		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
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		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: rs1556863340
rs1556863340
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1556863398
rs1556863398
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs1556863435
rs1556863435
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1556863492
rs1556863492
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		A 0.700 CausalMutation CLINVAR