SNP Detail For rs312691
1.Mapping Information
Human SNP ID rs312691
Human chromosome chr17
Human SNP position 70330197
Pig chromosome chr12
Pig SNP position 10524373
2.Annotation Information
PubMed ID22863731
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22863731
StudyGenome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
Disease/TraitThyrotoxic hypokalemic periodic paralysis
Initial sample69 Chinese ancestry cases, 1,170 East Asian ancestry controls
Replication sample54 Chinese ancestry cases, 400 Taiwanese ancestry controls
Region17q24.3
Chromosome idchr17
Chromosome position70330197
Reported geneKCNJ16, KCNJ2
Mapped geneCALM2P1 - LOC105371884
Upstream gene id100128390
Downstream gene id105371884
SNP gene ids
Upstream gene distance87819
Downstream gene distance481274
SNP risk allelers312691-C
SNPsrs312691
Merged0
SNP id current312691
Contextintron_variant
Intergenic1
Allele frequency0.76
P value0.00000000000008
Pvalue mlog13.096910013008
P value text
Or beta3.2
%95 Ci[2.40-4.40]
PlatformIllumina [486782]
CNVN
Mapped traitThyrotoxic periodic paralysis
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_79102
Study accessionGCST001627