|
rs201278558
|
SLC1A4;LINC02245;LOC107984063
|
Infantile Spasm
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs6546118
|
LINC02245;LOC107984063
|
Leukemia, Myelocytic, Acute
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs1009358
|
LINC02245;LINC02576;LOC107984063
|
Diabetes Mellitus, Non-Insulin-Dependent
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
|
30054458 |
2018 |
|
rs1057517664
|
SLC1A4;LINC02245;LOC107984063
|
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs2540950
|
LINC02245;LINC02576;LOC107984063
|
Systolic Pressure
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
|
27841878 |
2017 |
|
rs6712664
|
LINC02245;LOC107984063
|
Leukemia, Myelocytic, Acute
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs6728523
|
CEP68;LINC02245;LOC107984063
|
High density lipoprotein measurement
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
|
30275531 |
2018 |
|
rs9677813
|
LINC02245;LOC107984063
|
Leukemia, Myelocytic, Acute
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs2540953
|
LINC02245;LINC02576;LOC107984063
|
Atrial Fibrillation
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.
|
28416822 |
2017 |
|
rs761533681
|
SLC1A4;LINC02245;LOC107984063
|
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1009360
|
LINC02245;LINC02576;LOC107984063
|
High density lipoprotein measurement
|
T |
0.700 |
GeneticVariation |
GWASCAT |
A large electronic-health-record-based genome-wide study of serum lipids.
|
29507422 |
2018 |
|
rs1009360
|
LINC02245;LINC02576;LOC107984063
|
Triglycerides measurement
|
T |
0.700 |
GeneticVariation |
GWASCAT |
A large electronic-health-record-based genome-wide study of serum lipids.
|
29507422 |
2018 |
|
rs1541580
|
SLC1A4;LINC02245;LOC107984063
|
Leukemia, Myelocytic, Acute
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs2723064
|
LINC02245;LINC02576;LOC107984063
|
Atrial Fibrillation
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.
|
28416818 |
2017 |
|
rs2723064
|
LINC02245;LINC02576;LOC107984063
|
Atrial Fibrillation
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Multi-ethnic genome-wide association study for atrial fibrillation.
|
29892015 |
2018 |
|
rs3732062
|
SLC1A4;LINC02245;LOC107984063
|
Leukemia, Myelocytic, Acute
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs3770705
|
SLC1A4;LINC02245;LOC107984063
|
Leukemia, Myelocytic, Acute
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs761533681
|
SLC1A4;LINC02245;LOC107984063
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
|
19963421 |
2010 |
|
rs761533681
|
SLC1A4;LINC02245;LOC107984063
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
|
27193218 |
2016 |
|
rs761533681
|
SLC1A4;LINC02245;LOC107984063
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
|
25930971 |
2015 |
|
rs761533681
|
SLC1A4;LINC02245;LOC107984063
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
|
26041762 |
2015 |
|
rs761533681
|
SLC1A4;LINC02245;LOC107984063
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
|
26138499 |
2015 |
|
rs761533681
|
SLC1A4;LINC02245;LOC107984063
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Calmodulin and protein kinase C cross-talk: the MARCKS protein is an actin filament and plasma membrane cross-linking protein regulated by protein kinase C phosphorylation and by calmodulin.
|
1395931 |
1992 |