Human SNP ID | rs13041247 |
---|---|
Human chromosome | chr20 |
Human SNP position | 40640434 |
Pig chromosome | chr17 |
Pig SNP position | 48654500 |
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 | 20q12 |
Chromosome id | chr20 |
Chromosome position | 40640434 |
Reported gene | NR |
Mapped gene | LOC102724968 - LOC105372620 |
Upstream gene id | 102724968 |
Downstream gene id | 105372620 |
SNP gene ids | |
Upstream gene distance | 21249 |
Downstream gene distance | 36798 |
SNP risk allele | rs13041247-T |
SNPs | rs13041247 |
Merged | 0 |
SNP id current | 13041247 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000000006 |
Pvalue mlog | 8.22184874961635 |
P value text | (Meta-All, NSCL/P) |
Or beta | 1.19 |
%95 Ci | [1.06-1.35] |
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 | 25775280 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/25775280 |
Study | Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. |
Disease/Trait | Nonsyndromic cleft lip with or without cleft palate |
Initial sample | 858 Chinese ancestry cases, 1,248 Chinese ancestry controls |
Replication sample | 1,663 Chinese ancestry cases, 1,874 Chinese ancestry controls |
Region | 20q12 |
Chromosome id | chr20 |
Chromosome position | 40640434 |
Reported gene | MAFB |
Mapped gene | LOC102724968 - LOC105372620 |
Upstream gene id | 102724968 |
Downstream gene id | 105372620 |
SNP gene ids | |
Upstream gene distance | 21249 |
Downstream gene distance | 36798 |
SNP risk allele | rs13041247-T |
SNPs | rs13041247 |
Merged | 0 |
SNP id current | 13041247 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.00000000002 |
Pvalue mlog | 10.698970004336 |
P value text | |
Or beta | 1.32 |
%95 Ci | [1.20-1.41] |
Platform | Affymetrix [842556] |
CNV | N |
Mapped trait | cleft palate, cleft lip |
Mapped trait URI | http://purl.obolibrary.org/obo/HP_0000175, http://www.ebi.ac.uk/efo/EFO_0003959 |
Study accession | GCST002811 |