Human SNP ID | rs6684514 |
---|---|
Human chromosome | chr1 |
Human SNP position | 156285665 |
Pig chromosome | chr4 |
Pig SNP position | 102467045 |
PubMed ID | 20139978 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Mean corpuscular hemoglobin concentration |
Initial sample | 14,377 Japanese ancestry individuals |
Replication sample | NA |
Region | 1q22 |
Chromosome id | chr1 |
Chromosome position | 156285665 |
Reported gene | CCT3, BGLAP, PAQR6, SMG5, TMEM79, C1orf182, C1orf85, VHLL |
Mapped gene | TMEM79 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 84283 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs6684514-A |
SNPs | rs6684514 |
Merged | 0 |
SNP id current | 6684514 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.21 |
P value | 0.000000003 |
Pvalue mlog | 8.52287874528033 |
P value text | |
Or beta | 0.086 |
%95 Ci | [0.057-0.115] unit decrease |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | hemoglobin measurement, mean corpuscular hemoglobin |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004509, http://www.ebi.ac.uk/efo/EFO_0004527 |
Study accession | GCST000582 |
PubMed ID | 24647736 |
Journal | Diabetes |
Link | www.ncbi.nlm.nih.gov/pubmed/24647736 |
Study | Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. |
Disease/Trait | Glycated hemoglobin levels |
Initial sample | 17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals |
Replication sample | up to 13,585 East Asian ancestry individuals |
Region | 1q22 |
Chromosome id | chr1 |
Chromosome position | 156285665 |
Reported gene | CCT3, TMEM79, c1orf85 |
Mapped gene | TMEM79 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 84283 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs6684514-G |
SNPs | rs6684514 |
Merged | 0 |
SNP id current | 6684514 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.76 |
P value | 1E-23 |
Pvalue mlog | 23 |
P value text | |
Or beta | 0.09 |
%95 Ci | [0.070-0.110] unit increase |
Platform | Affymetrix, Illumina [up to 2400000] (imputed) |
CNV | N |
Mapped trait | A1C measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004541 |
Study accession | GCST002390 |