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 |
rs786205133
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
|
25735484 |
2015 |
rs121909323
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
rs34002892
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
|
25606425 |
2014 |
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 |
rs1566446604
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Disruptive CHD8 mutations define a subtype of autism early in development.
|
24998929 |
2014 |
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 |
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 |
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 |
rs10489525
|
|
G |
0.800 |
GeneticVariation |
GWASDB |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs10489525
|
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11102800
|
|
C |
0.800 |
GeneticVariation |
GWASDB |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11102800
|
|
C |
0.800 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11102807
|
|
A |
0.800 |
GeneticVariation |
GWASDB |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11102807
|
|
A |
0.800 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11582563
|
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11582563
|
|
G |
0.800 |
GeneticVariation |
GWASDB |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11585926
|
|
T |
0.800 |
GeneticVariation |
GWASDB |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11585926
|
|
T |
0.800 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11587400
|
|
C |
0.800 |
GeneticVariation |
GWASDB |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11587400
|
|
C |
0.800 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11589568
|
|
T |
0.800 |
GeneticVariation |
GWASCAT |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |
rs11589568
|
|
T |
0.800 |
GeneticVariation |
GWASDB |
Common genetic variants on 1p13.2 associate with risk of autism.
|
24189344 |
2014 |