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SNP Detail For rs8001641
1.Mapping Information
| Human SNP ID | rs8001641 |
|---|---|
| Human chromosome | chr13 |
| Human SNP position | 80118676 |
| Pig chromosome | chr11 |
| Pig SNP position | 56794825 |
2.Annotation Information
| 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 | 13q31.1 |
| Chromosome id | chr13 |
| Chromosome position | 80118676 |
| Reported gene | SPRY2 |
| Mapped gene | LOC101927216 - LOC105370275 |
| Upstream gene id | 101927216 |
| Downstream gene id | 105370275 |
| SNP gene ids | |
| Upstream gene distance | 43370 |
| Downstream gene distance | 2911 |
| SNP risk allele | rs8001641-A |
| SNPs | rs8001641 |
| Merged | 0 |
| SNP id current | 8001641 |
| Context | intergenic_variant |
| Intergenic | 1 |
| Allele frequency | NR |
| P value | 0.0000000003 |
| Pvalue mlog | 9.52287874528033 |
| P value text | (Meta-All, NSCL/P) |
| Or beta | 1.307 |
| %95 Ci | [1.13-1.511] |
| Platform | NR [497084] |
| CNV | N |
| Mapped trait | progranulin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004625 |
| Study accession | GCST001628 |
| 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 | 13q31.1 |
| Chromosome id | chr13 |
| Chromosome position | 80118676 |
| Reported gene | SPRY2 |
| Mapped gene | LOC101927216 - LOC105370275 |
| Upstream gene id | 101927216 |
| Downstream gene id | 105370275 |
| SNP gene ids | |
| Upstream gene distance | 43370 |
| Downstream gene distance | 2911 |
| SNP risk allele | rs8001641-A |
| SNPs | rs8001641 |
| Merged | 0 |
| SNP id current | 8001641 |
| Context | intergenic_variant |
| Intergenic | 1 |
| Allele frequency | NR |
| P value | 0.00000000009 |
| Pvalue mlog | 10.0457574905606 |
| P value text | (Meta-All, NSCLP) |
| Or beta | 1.354 |
| %95 Ci | [1.141-1.607] |
| Platform | NR [497084] |
| CNV | N |
| Mapped trait | progranulin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004625 |
| Study accession | GCST001628 |
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and Xi'an University of Technology ©2014-2017 All Rights Reserved.
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