Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402760
rs1135402760
BRSK2
C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs1566446604
rs1566446604
CHD8
G 0.700 CausalMutation CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910

2016
dbSNP: rs121909323
rs121909323
CACNA1A
A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs4773054
rs4773054 		0.700 GeneticVariation GWASCAT A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? 25534755

2015
dbSNP: rs786205133
rs786205133
RLIM
C 0.700 GeneticVariation CLINVAR Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. 25735484

2015
dbSNP: rs10858047
rs10858047 		T 0.700 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs1566446604
rs1566446604
CHD8
G 0.700 CausalMutation CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929

2014
dbSNP: rs34002892
rs34002892
GNPTAB
T 0.700 CausalMutation CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425

2014
dbSNP: rs10239799
rs10239799 		0.700 GeneticVariation GWASDB A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. 22935194

2013
dbSNP: rs11899372
rs11899372 		0.700 GeneticVariation GWASDB A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. 22935194

2013
dbSNP: rs1429793
rs1429793
NELL1 ; LOC105376585
0.700 GeneticVariation GWASDB A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. 22935194

2013
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Clinical and molecular features of POLG-related mitochondrial disease. 23545419

2013
dbSNP: rs17134117
rs17134117
SDK1
0.700 GeneticVariation GWASDB A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. 22935194

2013
dbSNP: rs2056412
rs2056412
FAM135B
0.700 GeneticVariation GWASDB A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. 22935194

2013
dbSNP: rs2779251
rs2779251 		0.700 GeneticVariation GWASDB A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. 22935194

2013
dbSNP: rs3797817
rs3797817
FER
0.700 GeneticVariation GWASDB A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. 22935194

2013
dbSNP: rs4925506
rs4925506 		0.700 GeneticVariation GWASDB A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. 22935194

2013
dbSNP: rs10185592
rs10185592
LOC105373847
0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012
dbSNP: rs10205350
rs10205350
GALNT14
0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs1064794254
rs1064794254
UPF3B
C 0.700 CausalMutation CLINVAR Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. 22609145

2012
dbSNP: rs10749886
rs10749886 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012
dbSNP: rs10904487
rs10904487 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012