Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519511
rs1057519511
BRPF1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519522
rs1057519522
EBF3
A 0.700 CausalMutation CLINVAR

dbSNP: rs145606134
rs145606134
RAB40AL ; LINC00630
0.010 GeneticVariation BEFREE An X-linked neurodevelopmental disorder previously had been reported in only one family, associated with a p.D59G mutation in the RAB40AL gene that encodes a mitochondrial Ras protein. 24863632

2014
dbSNP: rs1555349214
rs1555349214
NKX2-1 ; SFTA3 ; NKX2-1-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs17070145
rs17070145
WWC1
0.010 GeneticVariation BEFREE Association of KIBRA rs17070145 polymorphism with episodic memory in the early stages of a human neurodevelopmental disorder. 25146696

2014
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.010 GeneticVariation BEFREE MTR 2756A > G and MTRR 66A > G genotype frequencies in children with FACS and neurodevelopmental disorder were different from those in healthy blood donor controls. 17853476

2007
dbSNP: rs1805087
rs1805087
MTR
0.010 GeneticVariation BEFREE MTR 2756A > G and MTRR 66A > G genotype frequencies in children with FACS and neurodevelopmental disorder were different from those in healthy blood donor controls. 17853476

2007
dbSNP: rs267606827
rs267606827
FOXG1
0.010 GeneticVariation BEFREE The subject with the p.Trp308X mutation presented with a severe RTT-like neurodevelopmental disorder, whereas the p.Tyr400X allele was associated with a classical clinical RTT presentation. 19564653

2010
dbSNP: rs387906726
rs387906726
PIGA
0.010 GeneticVariation BEFREE Furthermore, neural progenitors derived from PIGAc.1234C>T hiPSCs demonstrate increased susceptibility to complement-mediated cytotoxicity, suggesting that defective complement regulation may contribute to neurodevelopmental disorders. 28441409

2017
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.010 GeneticVariation BEFREE The Val66Met polymorphism of brain-derived neurotrophic factor (BDNF) has emerged as a high-interest genetic variant due to its importance in cortical maturation, and several studies have implicated its involvement in neurodevelopmental disorders. 31264106

2020
dbSNP: rs745638189
rs745638189
PTEN
0.010 GeneticVariation BEFREE Three novel de novo missense mutations were found (p.H118P, p.Y176C, p.N276S) in two severely mentally retarded patients with autism and in a subject with neurodevelopmental disorders without autistic features. 18759867

2009
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.010 GeneticVariation BEFREE The Val66Met polymorphism of brain-derived neurotrophic factor (BDNF) has emerged as a high-interest genetic variant due to its importance in cortical maturation, and several studies have implicated its involvement in neurodevelopmental disorders. 31264106

2020
dbSNP: rs869312704
rs869312704
TBR1
CGCTGCAG 0.700 GeneticVariation CLINVAR

dbSNP: rs949944999
rs949944999
H3C11 ; H4C13
0.010 GeneticVariation BEFREE Our results show that the monoallelic p.K91E substitution on HIST1H4J underlies a human syndrome that is genetically and phenotypically akin to the HIST1H4C-associated neurodevelopmental disorder resulting from p.K91A and p.K91Q substitions in HIST1H4C. 31804630

2019