SNP Detail For rs8070723
1.Mapping Information
Human SNP ID rs8070723
Human chromosome chr17
Human SNP position 46003698
Pig chromosome chr12
Pig SNP position 17141782
2.Annotation Information
PubMed ID21044948
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21044948
StudyDissection of the genetics of Parkinson__s disease identifies an additional association 5__ of SNCA and multiple associated haplotypes at 17q21.
Disease/TraitParkinson__s disease
Initial sample1,705 European ancestry cases, 5,175 European ancestry controls
Replication sample1,039 European ancestry cases, 1,984 European ancestry controls
Region17q21.31
Chromosome idchr17
Chromosome position46003698
Reported geneMAPT
Mapped geneMAPT
Upstream gene id
Downstream gene id
SNP gene ids4137
Upstream gene distance
Downstream gene distance
SNP risk allelers8070723-?
SNPsrs8070723
Merged0
SNP id current8070723
Contextintron_variant
Intergenic0
Allele frequency0.76
P value0.000000000007
Pvalue mlog11.1549019599857
P value text
Or beta1.3
%95 Ci[1.19-1.43]
PlatformIllumina [532616]
CNVN
Mapped traitParkinson__s disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002508
Study accessionGCST000855
PubMed ID21685912
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21685912
StudyIdentification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Disease/TraitProgressive supranuclear palsy
Initial sample1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls
Replication sample1,051 European ancestry cases, 3,560 European ancestry controls
Region17q21.31
Chromosome idchr17
Chromosome position46003698
Reported geneMAPT
Mapped geneMAPT
Upstream gene id
Downstream gene id
SNP gene ids4137
Upstream gene distance
Downstream gene distance
SNP risk allelers8070723-?
SNPsrs8070723
Merged0
SNP id current8070723
Contextintron_variant
Intergenic0
Allele frequency0.23
P value2E-118
Pvalue mlog117.698970004336
P value text
Or beta5.11
%95 Ci[4.43-5.91]
PlatformIllumina [531451]
CNVN
Mapped traitProgressive supranuclear palsy
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_683
Study accessionGCST001116