Human SNP ID | rs7590268 |
---|---|
Human chromosome | chr2 |
Human SNP position | 43312986 |
Pig chromosome | chr3 |
Pig SNP position | 103183224 |
PubMed ID | 20023658 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20023658 |
Study | Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. |
Disease/Trait | Orofacial clefts |
Initial sample | 399 European ancestry cases, 1,318 European ancestry controls |
Replication sample | 655 European ancestry triads |
Region | 2p21 |
Chromosome id | chr2 |
Chromosome position | 43312986 |
Reported gene | THADA |
Mapped gene | THADA |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 63892 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7590268-G |
SNPs | rs7590268 |
Merged | 0 |
SNP id current | 7590268 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.22 |
P value | 0.00000009 |
Pvalue mlog | 7.04575749056067 |
P value text | |
Or beta | 1.42 |
%95 Ci | [1.26-1.59] |
Platform | Illumina [521288] |
CNV | N |
Mapped trait | cleft lip |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003959 |
Study accession | GCST000547 |
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 | 2p21 |
Chromosome id | chr2 |
Chromosome position | 43312986 |
Reported gene | THADA |
Mapped gene | THADA |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 63892 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7590268-G |
SNPs | rs7590268 |
Merged | 0 |
SNP id current | 7590268 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000001 |
Pvalue mlog | 8 |
P value text | (Meta-All, NSCL/P) |
Or beta | 1.415 |
%95 Ci | [1.225-1.636] |
Platform | NR [497084] |
CNV | N |
Mapped trait | progranulin measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004625 |
Study accession | GCST001628 |