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: rs1877455
rs1877455 		A 0.810 GeneticVariation GWASDB Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. 24189344

2014
dbSNP: rs1877455
rs1877455 		T 0.810 GeneticVariation GWASDB Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. 24189344

2014
dbSNP: rs1877455
rs1877455 		T 0.810 GeneticVariation GWASCAT Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. 24189344

2014
dbSNP: rs10489525
rs10489525
CSDE1
G 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs10489525
rs10489525
CSDE1
G 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11102800
rs11102800
TRIM33
C 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11102800
rs11102800
TRIM33
C 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11102807
rs11102807 		A 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11102807
rs11102807 		A 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11582563
rs11582563
TRIM33
G 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11582563
rs11582563
TRIM33
G 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11585926
rs11585926
TRIM33
T 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11585926
rs11585926
TRIM33
T 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11587400
rs11587400
PKMP1
C 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11587400
rs11587400
PKMP1
C 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11589568
rs11589568
TRIM33
T 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs11589568
rs11589568
TRIM33
T 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs3827735
rs3827735
TRIM33
C 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014
dbSNP: rs3827735
rs3827735
TRIM33
C 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014