Human SNP ID | rs12543318 |
---|---|
Human chromosome | chr8 |
Human SNP position | 87856112 |
Pig chromosome | chr4 |
Pig SNP position | 53785491 |
PubMed ID | 22863734 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22863734 |
Study | Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. |
Disease/Trait | Orofacial clefts |
Initial sample | Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls |
Replication sample | up to 795 East Asian ancestry trios |
Region | 8q21.3 |
Chromosome id | chr8 |
Chromosome position | 87856112 |
Reported gene | NR |
Mapped gene | LOC105375626 - DCAF4L2 |
Upstream gene id | 105375626 |
Downstream gene id | 138009 |
SNP gene ids | |
Upstream gene distance | 187673 |
Downstream gene distance | 14631 |
SNP risk allele | rs12543318-C |
SNPs | rs12543318 |
Merged | 0 |
SNP id current | 12543318 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.00000002 |
Pvalue mlog | 7.69897000433601 |
P value text | (Meta-All, NSCL/P) |
Or beta | 1.272 |
%95 Ci | [1.106-1.463] |
Platform | NR [497084] |
CNV | N |
Mapped trait | progranulin measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004625 |
Study accession | GCST001628 |