Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1476850082
rs1476850082
NRXN1
G 0.700 GeneticVariation CLINVAR Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. 25149956

2014
dbSNP: rs771759988
rs771759988
NRXN1
T 0.700 GeneticVariation CLINVAR Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. 25149956

2014
dbSNP: rs1476850082
rs1476850082
NRXN1
G 0.700 GeneticVariation CLINVAR Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. 21964664

2011
dbSNP: rs771759988
rs771759988
NRXN1
T 0.700 GeneticVariation CLINVAR Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. 21964664

2011
dbSNP: rs1476850082
rs1476850082
NRXN1
G 0.700 GeneticVariation CLINVAR CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. 19896112

2009
dbSNP: rs771759988
rs771759988
NRXN1
T 0.700 GeneticVariation CLINVAR CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. 19896112

2009
dbSNP: rs267606922
rs267606922
NRXN1
C 0.700 CausalMutation CLINVAR