|
rs121434396
|
SLC25A12
|
Hypomyelination, Global Cerebral
|
|
0.800 |
GeneticVariation |
UNIPROT |
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
|
24515575 |
2014 |
|
rs886037851
|
SLC25A12
|
Hypomyelination, Global Cerebral
|
|
0.800 |
GeneticVariation |
UNIPROT |
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
|
24515575 |
2014 |
|
rs121434396
|
SLC25A12
|
Hypomyelination, Global Cerebral
|
|
0.800 |
GeneticVariation |
UNIPROT |
AGC1 deficiency associated with global cerebral hypomyelination.
|
19641205 |
2009 |
|
rs886037851
|
SLC25A12
|
Hypomyelination, Global Cerebral
|
|
0.800 |
GeneticVariation |
UNIPROT |
AGC1 deficiency associated with global cerebral hypomyelination.
|
19641205 |
2009 |
|
rs121434396
|
SLC25A12
|
Hypomyelination, Global Cerebral
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886037851
|
SLC25A12
|
Hypomyelination, Global Cerebral
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs9784123
|
HAT1;SLC25A12
|
Intelligence
|
|
0.700 |
GeneticVariation |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
|
rs9784123
|
HAT1;SLC25A12
|
Schizophrenia
|
|
0.700 |
GeneticVariation |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
|
rs2165934
|
HAT1;SLC25A12
|
mathematical ability
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
|
30038396 |
2018 |
|
rs17428076
|
SLC25A12
|
Myopia
|
|
0.700 |
GeneticVariation |
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
|
rs1400816
|
SLC25A12
|
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
|
24529757 |
2014 |
|
rs1400816
|
SLC25A12
|
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
|
24529757 |
2014 |
|
rs1400816
|
SLC25A12
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
|
24529757 |
2014 |
|
rs1400816
|
SLC25A12
|
Amyotrophic Lateral Sclerosis, Sporadic
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
|
24529757 |
2014 |
|
rs1553469156
|
SLC25A12
|
Hypomyelination, Global Cerebral
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs2056202
|
SLC25A12
|
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation |
BEFREE |
In addition, the G-C haplotype of rs1023159-rs1051266 in SCL19A1 (OR = 0.71, 95% CI = 0.51-0.98, P = 0.0389) and C-C haplotype of rs2056202-rs2292813 in SLC25A12 (OR = 0.58, 95% CI = 0.35-0.96, P = 0.0325) were associated with decreased risks of childhood ASD.
|
28536923 |
2017 |
|
rs2292813
|
SLC25A12
|
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation |
BEFREE |
In addition, the G-C haplotype of rs1023159-rs1051266 in SCL19A1 (OR = 0.71, 95% CI = 0.51-0.98, P = 0.0389) and C-C haplotype of rs2056202-rs2292813 in SLC25A12 (OR = 0.58, 95% CI = 0.35-0.96, P = 0.0325) were associated with decreased risks of childhood ASD.
|
28536923 |
2017 |
|
rs2056202
|
SLC25A12
|
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation |
BEFREE |
We found a statistically significant association between ASD and variant in rs2292813 (OR = 1.190, 95% CI 1.052-1.346, P = 0.006) as well as in rs2056202 (OR = 1.206, 95% CI 1.035-1.405, P = 0.016).
|
25663199 |
2016 |
|
rs2292813
|
SLC25A12
|
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation |
BEFREE |
We found a statistically significant association between ASD and variant in rs2292813 (OR = 1.190, 95% CI 1.052-1.346, P = 0.006) as well as in rs2056202 (OR = 1.206, 95% CI 1.035-1.405, P = 0.016).
|
25663199 |
2016 |
|
rs2056202
|
SLC25A12
|
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation |
BEFREE |
Our meta-analysis suggests that rs2056202 a</span>nd rs2292813 in SLC25A12 may contribute significantly to ASD risk.
|
25921325 |
2015 |
|
rs2292813
|
SLC25A12
|
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation |
BEFREE |
Our meta-analysis suggests that rs2056202 and rs2292813</span> in </span>SLC25A12 may contribute significantly to ASD risk.
|
25921325 |
2015 |
|
rs2056202
|
SLC25A12
|
Autistic Disorder
|
|
0.040 |
GeneticVariation |
BEFREE |
We genotyped two single nucleotide polymorphisms (SNPs, rs2056202 and rs2292813) of the SLC25A12 gene that were previously reported to be associated with autism in 465 patients (402 males and 63 females) and 450 control subjects (227 males and 223 females) from Taiwan.
|
19913066 |
2010 |
|
rs2292813
|
SLC25A12
|
Autistic Disorder
|
|
0.040 |
GeneticVariation |
BEFREE |
We genotyped two single nucleotide polymorphisms (SNPs, rs2056202 and rs2292813) of the SLC25A12 gene that were previously reported to be associated with autism in 465 patients (402 males and 63 females) and 450 control subjects (227 males and 223 females) from Taiwan.
|
19913066 |
2010 |
|
rs2056202
|
SLC25A12
|
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation |
BEFREE |
Evidence for a genetic association between autism and two single nucleotide polymorphisms (SNPs), rs2056202 and rs2292813, in the mitochondrial aspartate/glutamate carrier (SLC25A12) gene led us to ask whether any of the four previously identified familial traits in autism spectrum disorders (ASD) varied by these SNPs.
|
17894412 |
2008 |
|
rs2056202
|
SLC25A12
|
Autistic Disorder
|
|
0.040 |
GeneticVariation |
BEFREE |
Family-based association analysis of two SNPs, rs2056202 and rs2292813, previously shown to be associated with autism was performed in two samples with different phenotypic characteristics.
|
19360665 |
2008 |