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SNP Detail For rs13335629
1.Mapping Information
| Human SNP ID | rs13335629 |
|---|---|
| Human chromosome | chr16 |
| Human SNP position | 260381 |
| Pig chromosome | chr3 |
| Pig SNP position | 41018044 |
2.Annotation Information
| PubMed ID | 23446634 |
|---|---|
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23446634 |
| Study | Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. |
| Disease/Trait | Red blood cell traits |
| Initial sample | Up to 16,485 African American individuals |
| Replication sample | 9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals |
| Region | 16p13.3 |
| Chromosome id | chr16 |
| Chromosome position | 260381 |
| Reported gene | ITFG3, POLR3K, NPRL3, MPG, LUCL7, RPL2B |
| Mapped gene | ITFG3 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 83986 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs13335629-A |
| SNPs | rs13335629 |
| Merged | 0 |
| SNP id current | 13335629 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.12 |
| P value | 3E-23 |
| Pvalue mlog | 22.5228787452803 |
| P value text | (Hgb, AA) |
| Or beta | 0.19 |
| %95 Ci | [0.15-0.23] g/dL decrease |
| Platform | Affymetrix, Illumina [NR] |
| CNV | N |
| Mapped trait | hemoglobin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004509 |
| Study accession | GCST001873 |
| PubMed ID | 23446634 |
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23446634 |
| Study | Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. |
| Disease/Trait | Red blood cell traits |
| Initial sample | Up to 16,485 African American individuals |
| Replication sample | 9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals |
| Region | 16p13.3 |
| Chromosome id | chr16 |
| Chromosome position | 260381 |
| Reported gene | ITFG3, POLR3K, NPRL3, MPG, NME4, LUCL7, DECR, RPL2B |
| Mapped gene | ITFG3 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 83986 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs13335629-A |
| SNPs | rs13335629 |
| Merged | 0 |
| SNP id current | 13335629 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.117 |
| P value | 9E-48 |
| Pvalue mlog | 47.0457574905606 |
| P value text | (MCHC, AA) |
| Or beta | 0.3298 |
| %95 Ci | [0.29-0.37] g/dL decrease |
| Platform | Affymetrix, Illumina [NR] |
| CNV | N |
| Mapped trait | mean corpuscular hemoglobin concentration |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004528 |
| Study accession | GCST001873 |
| PubMed ID | 23446634 |
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23446634 |
| Study | Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. |
| Disease/Trait | Red blood cell traits |
| Initial sample | Up to 16,485 African American individuals |
| Replication sample | 9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals |
| Region | 16p13.3 |
| Chromosome id | chr16 |
| Chromosome position | 260381 |
| Reported gene | ITFG3, RHOT2, LMF1, WDR90, POLR3K, NPRL3, MPG, NME4, LUCL7, DECR, RPL2B |
| Mapped gene | ITFG3 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 83986 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs13335629-A |
| SNPs | rs13335629 |
| Merged | 0 |
| SNP id current | 13335629 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.134 |
| P value | 4E-22 |
| Pvalue mlog | 21.397940008672 |
| P value text | (MCV, AA) |
| Or beta | 0.648 |
| %95 Ci | [0.52-0.78] fL decrease |
| Platform | Affymetrix, Illumina [NR] |
| CNV | N |
| Mapped trait | mean corpuscular volume |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004526 |
| Study accession | GCST001873 |
| PubMed ID | 23446634 |
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23446634 |
| Study | Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. |
| Disease/Trait | Red blood cell traits |
| Initial sample | Up to 16,485 African American individuals |
| Replication sample | 9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals |
| Region | 16p13.3 |
| Chromosome id | chr16 |
| Chromosome position | 260381 |
| Reported gene | ITFG3, LUCL7 |
| Mapped gene | ITFG3 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 83986 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs13335629-A |
| SNPs | rs13335629 |
| Merged | 0 |
| SNP id current | 13335629 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.12 |
| P value | 7E-24 |
| Pvalue mlog | 23.1549019599857 |
| P value text | (RBC, AA) |
| Or beta | 0.1699 |
| %95 Ci | [0.14-0.20] x10^6/uL, increase |
| Platform | Affymetrix, Illumina [NR] |
| CNV | N |
| Mapped trait | erythrocyte count |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004305 |
| Study accession | GCST001873 |
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