SNP Detail For rs7577894
1.Mapping Information
Human SNP ID rs7577894
Human chromosome chr2
Human SNP position 55781769
Pig chromosome chr3
Pig SNP position 90246818
2.Annotation Information
PubMed ID19451621
JournalProc Natl Acad Sci U S A
Linkwww.ncbi.nlm.nih.gov/pubmed/19451621
StudyReduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
Disease/TraitAmyotrophic lateral sclerosis
Initial sample1,821 cases, 2,258 controls
Replication sample538 cases, 556 controls
Region2p16.1
Chromosome idchr2
Chromosome position55781769
Reported geneEFEMP1
Mapped genePNPT1 - LOC105374679
Upstream gene id87178
Downstream gene id105374679
SNP gene ids
Upstream gene distance87859
Downstream gene distance42389
SNP risk allelers7577894-T
SNPsrs7577894
Merged0
SNP id current7577894
Contextintergenic_variant
Intergenic1
Allele frequency0.39
P value0.000001
Pvalue mlog6
P value text(site of onset)
Or beta1.41
%95 Ci[NR]
PlatformIllumina [288357]
CNVN
Mapped traitamyotrophic lateral sclerosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000253
Study accessionGCST000406