rs2281983
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2281983(C;T) |
Make rs2281983(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 102231624 |
Gene | PITX3 |
is a | snp |
is | mentioned by |
dbSNP | rs2281983 |
dbSNP (classic) | rs2281983 |
ClinGen | rs2281983 |
ebi | rs2281983 |
HLI | rs2281983 |
Exac | rs2281983 |
Gnomad | rs2281983 |
Varsome | rs2281983 |
LitVar | rs2281983 |
Map | rs2281983 |
PheGenI | rs2281983 |
Biobank | rs2281983 |
1000 genomes | rs2281983 |
hgdp | rs2281983 |
ensembl | rs2281983 |
geneview | rs2281983 |
scholar | rs2281983 |
rs2281983 | |
pharmgkb | rs2281983 |
gwascentral | rs2281983 |
openSNP | rs2281983 |
23andMe | rs2281983 |
SNPshot | rs2281983 |
SNPdbe | rs2281983 |
MSV3d | rs2281983 |
GWAS Ctlg | rs2281983 |
GMAF | 0.3118 |
Max Magnitude | 0 |
[PMID 21524731] PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population
[PMID 21565251] Genetic variants of the PITX3 gene are not associated with late-onset sporadic Parkinson's disease in a Chinese population
[PMID 22411443] A novel synonymous SNP in PITX3 is associated with Parkinson's disease in Chinese population
[PMID 19394114] Transcription factor PITX3 gene in Parkinson's disease.
[PMID 19754401] The role of transcription factor Pitx3 in dopamine neuron development and Parkinson's disease.
[PMID 22037506] PITX3 polymorphism is not associated with Parkinson's disease in a Chinese population.
[PMID 22429667] Meta-analysis of association between PITX3 gene polymorphism and Parkinson's disease.
[PMID 24525476] PITX3 and Risk for Parkinson's Disease: A Systematic Review and Meta-Analysis
ClinVar | |
---|---|
Risk | rs2281983(A;A) rs2281983(T;T) |
Alt | rs2281983(A;A) rs2281983(T;T) |
Reference | Rs2281983(C;C) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | PITX3 |
CLNDBN | not specified |
Reversed | 1 |
HGVS | NC_000010.10:g.103991381G>A |
CLNSRC | |
CLNACC | RCV000177223.2, |