Human SNP ID | rs12229654 |
---|---|
Human chromosome | chr12 |
Human SNP position | 110976657 |
Pig chromosome | chr14 |
Pig SNP position | 34233803 |
PubMed ID | 21909109 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21909109 |
Study | Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. |
Disease/Trait | HDL cholesterol |
Initial sample | 12,545 Korean ancestry individuals |
Replication sample | Up to 30,395 East Asian ancestry individuals |
Region | 12q24.11 |
Chromosome id | chr12 |
Chromosome position | 110976657 |
Reported gene | MYL2 |
Mapped gene | LOC105369980 - LOC105369981 |
Upstream gene id | 105369980 |
Downstream gene id | 105369981 |
SNP gene ids | |
Upstream gene distance | 18896 |
Downstream gene distance | 35586 |
SNP risk allele | rs12229654-G |
SNPs | rs12229654 |
Merged | 0 |
SNP id current | 12229654 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.14 |
P value | 3E-23 |
Pvalue mlog | 22.5228787452803 |
P value text | |
Or beta | 0.028 |
%95 Ci | [0.023-0.033] mg/dL decrease |
Platform | Affymetrix [~ 2200000] (imputed) |
CNV | N |
Mapped trait | high density lipoprotein cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004612 |
Study accession | GCST001237 |
PubMed ID | 21909109 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21909109 |
Study | Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. |
Disease/Trait | Gamma glutamyl transpeptidase |
Initial sample | 12,545 Korean ancestry individuals |
Replication sample | Up to 30,395 East Asian ancestry individuals |
Region | 12q24.11 |
Chromosome id | chr12 |
Chromosome position | 110976657 |
Reported gene | MYL2 |
Mapped gene | LOC105369980 - LOC105369981 |
Upstream gene id | 105369980 |
Downstream gene id | 105369981 |
SNP gene ids | |
Upstream gene distance | 18896 |
Downstream gene distance | 35586 |
SNP risk allele | rs12229654-G |
SNPs | rs12229654 |
Merged | 0 |
SNP id current | 12229654 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.14 |
P value | 9E-58 |
Pvalue mlog | 57.0457574905606 |
P value text | |
Or beta | 0.0119 |
%95 Ci | [0.011-0.013] IU/L increase |
Platform | Affymetrix [~ 2200000] (imputed) |
CNV | N |
Mapped trait | serum gamma-glutamyl transferase measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004532 |
Study accession | GCST001234 |
PubMed ID | 21270382 |
Journal | Am J Clin Nutr |
Link | www.ncbi.nlm.nih.gov/pubmed/21270382 |
Study | Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. |
Disease/Trait | Alcohol consumption |
Initial sample | 1,721 Korean ancestry male individuals |
Replication sample | 1,113 Korean ancestry male individuals |
Region | 12q24.11 |
Chromosome id | chr12 |
Chromosome position | 110976657 |
Reported gene | MYL2 |
Mapped gene | LOC105369980 - LOC105369981 |
Upstream gene id | 105369980 |
Downstream gene id | 105369981 |
SNP gene ids | |
Upstream gene distance | 18896 |
Downstream gene distance | 35586 |
SNP risk allele | rs12229654-G |
SNPs | rs12229654 |
Merged | 0 |
SNP id current | 12229654 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.14 |
P value | 4E-35 |
Pvalue mlog | 34.397940008672 |
P value text | |
Or beta | 0.79 |
%95 Ci | [0.67-0.91] unit decrease |
Platform | Affymetrix [315914] |
CNV | N |
Mapped trait | alcohol drinking |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004329 |
Study accession | GCST000954 |
PubMed ID | 23575436 |
Journal | J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23575436 |
Study | New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population. |
Disease/Trait | Glycemic traits |
Initial sample | 7,696 Korean ancestry individuals |
Replication sample | 6,536 Korean ancestry individuals |
Region | 12q24.11 |
Chromosome id | chr12 |
Chromosome position | 110976657 |
Reported gene | MYL2 |
Mapped gene | LOC105369980 - LOC105369981 |
Upstream gene id | 105369980 |
Downstream gene id | 105369981 |
SNP gene ids | |
Upstream gene distance | 18896 |
Downstream gene distance | 35586 |
SNP risk allele | rs12229654-G |
SNPs | rs12229654 |
Merged | 0 |
SNP id current | 12229654 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | |
P value | 0.0000000000009 |
Pvalue mlog | 12.0457574905606 |
P value text | (1-hPG) |
Or beta | 0.277 |
%95 Ci | [0.20-0.35] mmol-1 decrease |
Platform | Affymetrix [357789] |
CNV | N |
Mapped trait | type II diabetes mellitus |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
Study accession | GCST001965 |
PubMed ID | 24861553 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24861553 |
Study | Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. |
Disease/Trait | Body mass index |
Initial sample | 82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals |
Replication sample | Up to 47,352 East Asian ancestry individuals |
Region | 12q24.11 |
Chromosome id | chr12 |
Chromosome position | 110976657 |
Reported gene | MYL2 |
Mapped gene | LOC105369980 - LOC105369981 |
Upstream gene id | 105369980 |
Downstream gene id | 105369981 |
SNP gene ids | |
Upstream gene distance | 18896 |
Downstream gene distance | 35586 |
SNP risk allele | rs12229654-T |
SNPs | rs12229654 |
Merged | 0 |
SNP id current | 12229654 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.8 |
P value | 0.000000005 |
Pvalue mlog | 8.30102999566398 |
P value text | |
Or beta | 0.0341 |
%95 Ci | [0.023-0.045] unit increase |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | body mass index |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004340 |
Study accession | GCST002461 |
PubMed ID | 25705158 |
Journal | Genomics Inform |
Link | www.ncbi.nlm.nih.gov/pubmed/25705158 |
Study | Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts. |
Disease/Trait | Metabolic syndrome |
Initial sample | 3,253 Korean ancestry cases, 5,589 Korean ancestry controls |
Replication sample | NA |
Region | 12q24.11 |
Chromosome id | chr12 |
Chromosome position | 110976657 |
Reported gene | MYL2 |
Mapped gene | LOC105369980 - LOC105369981 |
Upstream gene id | 105369980 |
Downstream gene id | 105369981 |
SNP gene ids | |
Upstream gene distance | 18896 |
Downstream gene distance | 35586 |
SNP risk allele | rs12229654-? |
SNPs | rs12229654 |
Merged | 0 |
SNP id current | 12229654 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Affymetrix [312121] |
CNV | N |
Mapped trait | metabolic syndrome |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000195 |
Study accession | GCST002732 |