Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607187
rs267607187
IQSEC2
0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010
dbSNP: rs267607187
rs267607187
IQSEC2
0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs267607187
rs267607187
IQSEC2
G 0.800 CausalMutation CLINVAR

dbSNP: rs267607188
rs267607188
IQSEC2
0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs267607188
rs267607188
IQSEC2
A 0.800 CausalMutation CLINVAR

dbSNP: rs267607188
rs267607188
IQSEC2
0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010
dbSNP: rs267607189
rs267607189
IQSEC2
T 0.800 CausalMutation CLINVAR

dbSNP: rs267607189
rs267607189
IQSEC2
0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs267607189
rs267607189
IQSEC2
0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010
dbSNP: rs875989799
rs875989799
IQSEC2
0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs875989799
rs875989799
IQSEC2
0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010
dbSNP: rs875989799
rs875989799
IQSEC2
A 0.800 CausalMutation CLINVAR

dbSNP: rs1057520858
rs1057520858
IQSEC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499660
rs1060499660
IQSEC2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064795512
rs1064795512
IQSEC2
GC 0.700 CausalMutation CLINVAR

dbSNP: rs1556858912
rs1556858912
IQSEC2
TTGGCC 0.700 CausalMutation CLINVAR

dbSNP: rs1556859744
rs1556859744
IQSEC2
C 0.700 CausalMutation CLINVAR

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
dbSNP: rs1556863340
rs1556863340
IQSEC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1556863398
rs1556863398
IQSEC2
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1556863435
rs1556863435
IQSEC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1556863492
rs1556863492
IQSEC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1556865060
rs1556865060
IQSEC2
C 0.700 CausalMutation CLINVAR