SNP Detail For rs183211
1.Mapping Information
Human SNP ID rs183211
Human chromosome chr17
Human SNP position 46710944
Pig chromosome chr12
Pig SNP position 17607658
2.Annotation Information
PubMed ID21812969
JournalBMC Med Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21812969
StudyGenome-wide association study identifies candidate genes for Parkinson__s disease in an Ashkenazi Jewish population.
Disease/TraitParkinson__s disease
Initial sample268 Ashkenazi Jewish cases, 178 Ashkenazi Jewish controls
Replication sample1,782 European ancestry cases, 1,658 European ancestry controls
Region17q21.31
Chromosome idchr17
Chromosome position46710944
Reported geneNSF
Mapped geneNSF
Upstream gene id
Downstream gene id
SNP gene ids4905
Upstream gene distance
Downstream gene distance
SNP risk allelers183211-T
SNPsrs183211
Merged0
SNP id current183211
Contextintron_variant
Intergenic0
Allele frequency0.24
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta
%95 Ci
PlatformIllumina [525124]
CNVN
Mapped traitParkinson__s disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002508
Study accessionGCST001189
PubMed ID23544013
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23544013
StudyGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Disease/TraitOvarian cancer in BRCA1 mutation carriers
Initial sample683 European ancestry cases, 2,044 European ancestry controls
Replication sample1,706 European ancestry cases, 10,258 European ancestry controls
Region17q21.31
Chromosome idchr17
Chromosome position46710944
Reported geneintergenic
Mapped geneNSF
Upstream gene id
Downstream gene id
SNP gene ids4905
Upstream gene distance
Downstream gene distance
SNP risk allelers183211-A
SNPsrs183211
Merged0
SNP id current183211
Contextintron_variant
Intergenic0
Allele frequency0.23
P value0.00000003
Pvalue mlog7.52287874528033
P value text
Or beta1.25
%95 Ci[1.16-1.35]
PlatformIllumina [2568349] (imputed)
CNVN
Mapped traitovarian carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001075
Study accessionGCST001917
PubMed ID23544013
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23544013
StudyGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Disease/TraitOvarian cancer in BRCA1 mutation carriers
Initial sample683 European ancestry cases, 2,044 European ancestry controls
Replication sample1,706 European ancestry cases, 10,258 European ancestry controls
Region17q21.31
Chromosome idchr17
Chromosome position46710944
Reported geneNR
Mapped geneNSF
Upstream gene id
Downstream gene id
SNP gene ids4905
Upstream gene distance
Downstream gene distance
SNP risk allelers183211-?
SNPsrs183211
Merged0
SNP id current183211
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000003
Pvalue mlog7.52287874528033
P value text
Or beta
%95 Ci
PlatformIllumina [2568349] (imputed)
CNVN
Mapped traitovarian carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001075
Study accessionGCST001917
PubMed ID25581431
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25581431
StudyIdentification of six new susceptibility loci for invasive epithelial ovarian cancer.
Disease/TraitEpithelial ovarian cancer
Initial sample4,368 European ancestry cases, 9,123 European ancestry controls,
Replication sample2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry sero
Region17q21.31
Chromosome idchr17
Chromosome position46710944
Reported genePLEKHM1
Mapped geneNSF
Upstream gene id
Downstream gene id
SNP gene ids4905
Upstream gene distance
Downstream gene distance
SNP risk allelers183211-A
SNPsrs183211
Merged0
SNP id current183211
Contextintron_variant
Intergenic0
Allele frequency0.24
P value0.0000000000002
Pvalue mlog12.698970004336
P value text
Or beta1.11
%95 Ci[1.07-1.16]
PlatformIllumina [up to 10962898] (imputed)
CNVN
Mapped traitMalignant epithelial tumor of ovary
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_398934
Study accessionGCST002748