Human SNP ID | rs312691 |
---|---|
Human chromosome | chr17 |
Human SNP position | 70330197 |
Pig chromosome | chr12 |
Pig SNP position | 10524373 |
PubMed ID | 22863731 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22863731 |
Study | Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3. |
Disease/Trait | Thyrotoxic hypokalemic periodic paralysis |
Initial sample | 69 Chinese ancestry cases, 1,170 East Asian ancestry controls |
Replication sample | 54 Chinese ancestry cases, 400 Taiwanese ancestry controls |
Region | 17q24.3 |
Chromosome id | chr17 |
Chromosome position | 70330197 |
Reported gene | KCNJ16, KCNJ2 |
Mapped gene | CALM2P1 - LOC105371884 |
Upstream gene id | 100128390 |
Downstream gene id | 105371884 |
SNP gene ids | |
Upstream gene distance | 87819 |
Downstream gene distance | 481274 |
SNP risk allele | rs312691-C |
SNPs | rs312691 |
Merged | 0 |
SNP id current | 312691 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.76 |
P value | 0.00000000000008 |
Pvalue mlog | 13.096910013008 |
P value text | |
Or beta | 3.2 |
%95 Ci | [2.40-4.40] |
Platform | Illumina [486782] |
CNV | N |
Mapped trait | Thyrotoxic periodic paralysis |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_79102 |
Study accession | GCST001627 |