Human SNP ID | rs12946942 |
---|---|
Human chromosome | chr17 |
Human SNP position | 71240857 |
Pig chromosome | chr12 |
Pig SNP position | 9725763 |
PubMed ID | 24023777 |
---|---|
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/24023777 |
Study | Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3. |
Disease/Trait | Adolescent idiopathic scoliosis (severe) |
Initial sample | 554 Japanese ancestry cases, 1,474 Japanese ancestry controls |
Replication sample | 839 East Asian ancestry cases, 10,149 East Asian ancestry controls |
Region | 17q24.3 |
Chromosome id | chr17 |
Chromosome position | 71240857 |
Reported gene | SOX9, KCNJ2 |
Mapped gene | CASC17 - LOC124685 |
Upstream gene id | 101928165 |
Downstream gene id | 124685 |
SNP gene ids | |
Upstream gene distance | 38678 |
Downstream gene distance | 380081 |
SNP risk allele | rs12946942-T |
SNPs | rs12946942 |
Merged | 0 |
SNP id current | 12946942 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.213 |
P value | 0.000000000006 |
Pvalue mlog | 11.2218487496163 |
P value text | |
Or beta | 2.21 |
%95 Ci | [1.76-2.77] |
Platform | Illumina [455121] |
CNV | N |
Mapped trait | adolescent idiopathic scoliosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005423 |
Study accession | GCST002169 |