Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518345
rs1057518345
ADNP
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518658
rs1057518658
SCN2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518993
rs1057518993
IQSEC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518999
rs1057518999
FOXP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519440
rs1057519440
GSPT2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057521223
rs1057521223
SCN2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499733
rs1060499733
DHX30
G 0.700 GeneticVariation CLINVAR

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 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: 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: 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: rs1085307845
rs1085307845
PHIP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1135402760
rs1135402760
BRSK2
C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs113871094
rs113871094
FBN1
A 0.700 CausalMutation CLINVAR

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

2011
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: rs12877501
rs12877501
COL4A2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1331463984
rs1331463984
TRAF7
A 0.700 CausalMutation CLINVAR

dbSNP: rs148881970
rs148881970
NAGLU
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553920379
rs1553920379
PPP3CA
AAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs1554210073
rs1554210073
PHIP
A 0.700 CausalMutation CLINVAR