Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555565492
rs1555565492
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1566823361
rs1566823361
TG 0.700 GeneticVariation CLINVAR

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: rs4307059
rs4307059
T 0.810 GeneticVariation GWASDB Common genetic variants on 5p14.1 associate with autism spectrum disorders. 19404256

2009

dbSNP: rs4307059
rs4307059
T 0.810 GeneticVariation GWASCAT Common genetic variants on 5p14.1 associate with autism spectrum disorders. 19404256

2009

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

2014

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

2014

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

2014

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

2014

dbSNP: rs6661053
rs6661053
T 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014

dbSNP: rs6661053
rs6661053
T 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344

2014

dbSNP: rs1085307845
rs1085307845
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
T 0.700 GeneticVariation CLINVAR

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

2014

dbSNP: rs113994098
rs113994098
T 0.700 CausalMutation CLINVAR Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. 19478085

2009

dbSNP: rs113994098
rs113994098
T 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011

dbSNP: rs113994098
rs113994098
T 0.700 CausalMutation CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792

2002

dbSNP: rs1555740650
rs1555740650
T 0.700 CausalMutation CLINVAR

dbSNP: rs1556425596
rs1556425596
T 0.700 CausalMutation CLINVAR

dbSNP: rs1563183492
rs1563183492
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1567574466
rs1567574466
T 0.700 CausalMutation CLINVAR

dbSNP: rs267608327
rs267608327
T 0.700 CausalMutation CLINVAR

dbSNP: rs34002892
rs34002892
T 0.700 CausalMutation CLINVAR Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 20880125

2011

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

2014