Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507444
rs397507444
MTHFR
0.020 GeneticVariation BEFREE Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation. 18782485

2008
dbSNP: rs61748420
rs61748420
MECP2
0.020 GeneticVariation BEFREE The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28. 11309367

2001
dbSNP: rs61748420
rs61748420
MECP2
0.020 GeneticVariation BEFREE Targeted next-generation sequencing of a panel of intellectual disability related genes was performed on two unrelated male patients, and two missense variants in MECP2 were identified (p.Gly185Val and p.Arg167Trp). 26490184

2016
dbSNP: rs745756308
rs745756308
HNMT ; LOC107985948
0.020 GeneticVariation BEFREE Leucine 208 in human histamine N-methyltransferase emerges as a hotspot for protein stability rationalizing the role of the L208P variant in intellectual disability. 27769936

2017
dbSNP: rs745756308
rs745756308
HNMT ; LOC107985948
0.020 GeneticVariation BEFREE We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. 26206890

2015
dbSNP: rs863225264
rs863225264
MTOR
0.020 GeneticVariation BEFREE Finally, a constitutional de novo mutation of MTOR (p.Glu1799Lys) was identified in 3 unrelated children with diffuse megalencephaly and intellectual disability. 27159400

2016
dbSNP: rs863225264
rs863225264
MTOR
0.020 GeneticVariation BEFREE Our report brings the total number of families who harbor MTOR p.E1799K in association with megalencephaly and ID to three. 26542245

2015
dbSNP: rs10194776
rs10194776
HTR2B ; PSMD1
0.010 GeneticVariation BEFREE Two polymorphisms in the HTR2B gene, rs10194776 and rs16827801, were associated with IQ (P=0.0004 and 0.003, respectively), ID (P=0.02 and 0.03) and LD (P=0.04 and 0.004). 24887447

2014
dbSNP: rs10410239
rs10410239
CC2D1A
0.010 GeneticVariation BEFREE Linkage disequilibrium (LD) analysis revealed that the rs6511901 and rs10410239 polymorphisms of CC2D1A were in strong LD (D'=0.865), and haplotype analysis showed evidence for over-transmission from parents to MR offspring (p=0.0009). 22023432

2012
dbSNP: rs1047322213
rs1047322213
PQBP1
0.010 GeneticVariation BEFREE Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia. 30244542

2018
dbSNP: rs104886492
rs104886492
HSD17B10
0.010 GeneticVariation BEFREE The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier. 22132097

2011
dbSNP: rs104894743
rs104894743
ARX
0.010 GeneticVariation BEFREE We generated three types of mice with knocked-in ARX mutations associated with X-linked lissencephaly (P353R) and mental retardation [P353L and 333ins(GCG)7]. 19605412

2009
dbSNP: rs1052108705
rs1052108705
POU5F1 ; TCF19
0.010 GeneticVariation BEFREE We established an induced pluripotent stem cell (iPSC) line (SDQLCHi010-A) from peripheral blood mononuclear cells isolated from a 4-year-old boy with optic nerve malformation and intellectual disability carrying a heterozygous mutation (c.220A>G (p.S74G)) in PAX6 gene. 31707209

2019
dbSNP: rs1057516085
rs1057516085
KCNQ2
0.010 GeneticVariation BEFREE The aim of the present work has been to investigate the molecular mechanisms of channel dysfunction caused by voltage-sensing domain mutations in Kv7.2 (R144Q, R201C, and R201H) or Kv7.3 (R230C) recently found in patients with epileptic encephalopathies and/or intellectual disability. 25740509

2015
dbSNP: rs1057519087
rs1057519087
MFSD2A
0.010 GeneticVariation BEFREE Here we show that a homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech. 26005865

2015
dbSNP: rs1131692042
rs1131692042
RPL10 ; SNORA70
0.010 GeneticVariation BEFREE Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A64V)) in the N-terminal domain of the protein, in a family with two affected cousins presenting with X-linked intellectual disability, cerebellar hypoplasia, and spondylo-epiphyseal dysplasia (SED). 26290468

2015
dbSNP: rs113994097
rs113994097
POLG
0.010 GeneticVariation BEFREE In another family the p.R722H mutation was found as compound heterozygosity with the common p.W748S mutation in two siblings with mental retardation, ptosis, epilepsy and psychiatric symptoms. 20438629

2010
dbSNP: rs115466046
rs115466046
KCNJ10
0.010 GeneticVariation BEFREE We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability. 21458570

2011
dbSNP: rs1162306056
rs1162306056
KCNQ3
0.010 GeneticVariation BEFREE The aim of the present work has been to investigate the molecular mechanisms of channel dysfunction caused by voltage-sensing domain mutations in Kv7.2 (R144Q, R201C, and R201H) or Kv7.3 (R230C) recently found in patients with epileptic encephalopathies and/or intellectual disability. 25740509

2015
dbSNP: rs1171889657
rs1171889657
HADHB
0.010 GeneticVariation BEFREE The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier. 22132097

2011
dbSNP: rs1177566365
rs1177566365
RIMS2
0.010 GeneticVariation BEFREE Targeted next-generation sequencing of a panel of intellectual disability related genes was performed on two unrelated male patients, and two missense variants in MECP2 were identified (p.Gly185Val and p.Arg167Trp). 26490184

2016
dbSNP: rs118203933
rs118203933
CA2
0.010 GeneticVariation BEFREE The presence of mental retardation and relative infrequency of skeletal fractures distinguish the clinical course of the patients with the Arabic mutation from those of the American and Belgian patients with the His 107-->Tyr mutation. 1301935

1992
dbSNP: rs121434612
rs121434612
PAK3
0.010 GeneticVariation BEFREE Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. 10946356

2000
dbSNP: rs121434614
rs121434614
PAK3
0.010 GeneticVariation BEFREE We report clinical, neuropsychological and molecular findings in affected males and carrier females in the fourth reported family with mental retardation caused by mutation in the PAK3 gene (Xq22.3-q23), W446S. 17853471

2007
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation. 18782485

2008