Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs786205133
rs786205133
RLIM
C 0.700 GeneticVariation CLINVAR Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. 25735484

2015
dbSNP: rs1566446604
rs1566446604
CHD8
G 0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Polymerase gamma 1 mutations: clinical correlations. 20220442

2010
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: rs34002892
rs34002892
GNPTAB
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: rs1064794254
rs1064794254
UPF3B
C 0.700 CausalMutation CLINVAR Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. 19238151

2010
dbSNP: rs113994098
rs113994098
POLG
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: rs1064794254
rs1064794254
UPF3B
C 0.700 CausalMutation CLINVAR Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778

2007
dbSNP: rs1555144459
rs1555144459
PKP2
CA 0.700 GeneticVariation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853

2004
dbSNP: rs1566446604
rs1566446604
CHD8
G 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs34002892
rs34002892
GNPTAB
T 0.700 CausalMutation CLINVAR Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene. 16465621

2006
dbSNP: rs1555144459
rs1555144459
PKP2
CA 0.700 GeneticVariation CLINVAR Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. 22781308

2012
dbSNP: rs113994098
rs113994098
POLG
T 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
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: rs558269137
rs558269137
FLG ; FLG-AS1
C 0.700 CausalMutation CLINVAR Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. 16444271

2006
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs4150167
rs4150167
TAF1C
0.800 GeneticVariation GWASCAT Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012
dbSNP: rs4150167
rs4150167
TAF1C
0.800 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012
dbSNP: rs4675502
rs4675502
PARD3B
0.800 GeneticVariation GWASCAT Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012
dbSNP: rs4675502
rs4675502
PARD3B
0.800 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012
dbSNP: rs7711337
rs7711337
LOC105377698
0.800 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012
dbSNP: rs7711337
rs7711337
LOC105377698
0.800 GeneticVariation GWASCAT Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504

2012