SNP Detail For rs2071598
1.Mapping Information
Human SNP ID rs2071598
Human chromosome chr8
Human SNP position 98117279
Pig chromosome chr4
Pig SNP position 41807954
2.Annotation Information
PubMed ID22210626
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22210626
StudyGenome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
Disease/TraitPrion diseases
Initial sample1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls
Replication sampleNA
Region8q22.2
Chromosome idchr8
Chromosome position98117279
Reported geneNR
Mapped geneHRSP12 - POP1
Upstream gene id10247
Downstream gene id10940
SNP gene ids
Upstream gene distance89
Downstream gene distance14
SNP risk allelers2071598-?
SNPsrs2071598
Merged0
SNP id current2071598
Contextupstream_gene_variant
Intergenic1
Allele frequencyNR
P value0.000009
Pvalue mlog5.04575749056067
P value text
Or beta1.2646
%95 Ci[NR]
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitprion disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004720
Study accessionGCST001366