Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1014959895
rs1014959895
PRMT7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518848
rs1057518848
TCF4
CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057521721
rs1057521721
GRIA3
A 0.700 GeneticVariation CLINVAR A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. 29016847

2017
dbSNP: rs112795301
rs112795301
FOXP1
0.710 GeneticVariation BEFREE FOXP1(R525X) is a de novo heterozygous mutation found in patients with autism and severe mental retardation. 30124790

2019
dbSNP: rs112795301
rs112795301
FOXP1
A 0.710 CausalMutation CLINVAR

dbSNP: rs1131692231
rs1131692231
CYFIP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1135401761
rs1135401761
AHDC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE Infant C677T MTHFR polymorphism and severe mental retardation. 17149733

2007
dbSNP: rs1223073957
rs1223073957
MED25
A 0.700 CausalMutation CLINVAR

dbSNP: rs122445099
rs122445099
ATRX
A 0.700 CausalMutation CLINVAR

dbSNP: rs1251713297
rs1251713297
PRMT7
A 0.700 CausalMutation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104

1989
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs1553655558
rs1553655558
TRIP12
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554041295
rs1554041295
ZSWIM6
T 0.700 CausalMutation CLINVAR A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. 29198722

2017
dbSNP: rs1554150607
rs1554150607
MEF2C
G 0.700 CausalMutation CLINVAR Refining the phenotype associated with MEF2C point mutations. 23001426

2013
dbSNP: rs1554150607
rs1554150607
MEF2C
G 0.700 CausalMutation CLINVAR Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. 19876902

2009
dbSNP: rs1554150607
rs1554150607
MEF2C
G 0.700 CausalMutation CLINVAR Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. 20513142

2010
dbSNP: rs1554150607
rs1554150607
MEF2C
G 0.700 CausalMutation CLINVAR MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. 19592390

2010