rs1135402760
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
|
30879638 |
2019 |
rs1555453538
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Understanding the Epilepsy in POLG Related Disease.
|
28837072 |
2017 |
rs1566446604
|
|
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 |
rs121909323
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
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 |
rs786205133
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
|
25735484 |
2015 |
rs10858047
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs1566446604
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Disruptive CHD8 mutations define a subtype of autism early in development.
|
24998929 |
2014 |
rs34002892
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
|
25606425 |
2014 |
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 |
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 |
rs1429793
|
|
|
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 |
rs1555453538
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and molecular features of POLG-related mitochondrial disease.
|
23545419 |
2013 |
rs17134117
|
|
|
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 |
rs2056412
|
|
|
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 |
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 |
rs3797817
|
|
|
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 |
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 |
rs10185592
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
|
22843504 |
2012 |
rs10205350
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
|
22843504 |
2012 |
rs1064793345
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
|
22595938 |
2012 |
rs1064793345
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
rs1064794254
|
|
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 |
rs10749886
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
|
22843504 |
2012 |
rs10904487
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
|
22843504 |
2012 |