| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.112207597G>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.112645401G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HECTD4 transcript | NM_001109662.3:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=1.000 | A=0.000 |
| 1000Genomes | American | Sub | 694 | G=1.000 | A=0.000 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.871 | A=0.129 |
| 1000Genomes | Europe | Sub | 1006 | G=1.000 | A=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.974 | A=0.026 |
| 1000Genomes | South Asian | Sub | 978 | G=1.000 | A=0.000 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.999 | A=0.001 |
| The Genome Aggregation Database | African | Sub | 8714 | G=1.000 | A=0.000 |
| The Genome Aggregation Database | American | Sub | 838 | G=1.000 | A=0.000 |
| The Genome Aggregation Database | East Asian | Sub | 1616 | G=0.828 | A=0.172 |
| The Genome Aggregation Database | Europe | Sub | 18506 | G=0.999 | A=0.000 |
| The Genome Aggregation Database | Global | Study-wide | 29976 | G=0.990 | A=0.009 |
| The Genome Aggregation Database | Other | Sub | 302 | G=1.000 | A=0.000 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.999 | A=0.000 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=1.000 | A=0.000 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 27923415 | Association of body mass index-related single nucleotide polymorphisms with psychiatric disease and memory performance in a Japanese population. | Ninomiya-Baba M | Acta Neuropsychiatr |
| 22865593 | Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population. | Bye H | Carcinogenesis |
| 21367945 | Genome-wide association studies of alcohol intake--a promising cocktail? | Agrawal A | Am J Clin Nutr |
| 26891264 | No Interaction with Alcohol Consumption, but Independent Effect of C12orf51 (HECTD4) on Type 2 Diabetes Mellitus in Korean Adults Aged 40-69 Years: The KoGES_Ansan and Ansung Study. | Kim J | PLoS One |
| 27480026 | Genome Wide Association Study Identifies L3MBTL4 as a Novel Susceptibility Gene for Hypertension. | Liu X | Sci Rep |
| 21466928 | Genetics and epigenetics of obesity. | Herrera BM | Maturitas |
| 26675016 | A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans. | Cha S | PLoS One |
| 25464127 | On the analysis of a repeated measure design in genome-wide association analysis. | Lee Y | Int J Environ Res Public Health |
| 22043165 | Genetics of Obesity: What have we Learned? | Choquet H | Curr Genomics |
| 26972231 | Associations Between Alcohol Consumption and Leukocyte Telomere Length Modified by a Common Polymorphism of ALDH2. | Shin C | Alcohol Clin Exp Res |
| 26480920 | Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. | Sung YJ | Int J Obes (Lond) |
| 25133033 | Epidemiological studies of esophageal cancer in the era of genome-wide association studies. | Wang AH | World J Gastrointest Pathophysiol |
| 25774817 | Genetics of type 2 diabetes-pitfalls and possibilities. | Prasad RB | Genes (Basel) |
| 19396169 | A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. | Cho YS | Nat Genet |
| 22507220 | Epidemiologic differences in esophageal cancer between Asian and Western populations. | Zhang HZ | Chin J Cancer |
| 27159875 | Sex and Gender Differences in Risk, Pathophysiology and Complications of Type 2 Diabetes Mellitus. | Kautzky-Willer A | Endocr Rev |
| 23555315 | Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. | Haiman CA | PLoS Genet |
| 28424424 | Leukocyte telomere length-related genetic variants in ACYP2 contribute to the risk of esophageal carcinoma in Chinese Han population. | Fang Q | Oncotarget |
| 23629646 | Epidemiology of esophageal cancer in Japan and China. | Lin Y | J Epidemiol |
| 27181629 | Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus. | Sakiyama M | Sci Rep |
| 28339009 | Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies. | Yamada Y | Int J Mol Med |
| 21270382 | Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. | Baik I | Am J Clin Nutr |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs2074356 | 1.19E-75 | alcohol (ever vs. never) | 23555315 |
| rs2074356 | 9.00E-59 | alcohol consumption | 21270382 |
| rs2074356 | 6.42E-08 | alcohol consumption | 23555315 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
|---|---|---|---|---|---|---|---|
| There is no eQTL annotation for this SNP | |||||||
| Probe ID | Position | Gene | beta | p-value | |||
|---|---|---|---|---|---|---|---|
| There is no meQTL annotation for this SNP | |||||||
There is no significant Hi-C chromatin interaction data for this SNP.
| Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
|---|---|---|---|---|
| chr12 | 112600252 | 112600346 | E067 | -45055 |
| chr12 | 112600519 | 112600616 | E067 | -44785 |
| chr12 | 112600688 | 112600759 | E067 | -44642 |
| chr12 | 112600858 | 112600963 | E067 | -44438 |
| chr12 | 112620232 | 112621765 | E067 | -23636 |
| chr12 | 112621832 | 112621920 | E067 | -23481 |
| chr12 | 112622100 | 112622189 | E067 | -23212 |
| chr12 | 112622404 | 112622461 | E067 | -22940 |
| chr12 | 112622531 | 112622663 | E067 | -22738 |
| chr12 | 112628888 | 112629488 | E067 | -15913 |
| chr12 | 112629655 | 112629829 | E067 | -15572 |
| chr12 | 112629851 | 112630182 | E067 | -15219 |
| chr12 | 112630242 | 112630363 | E067 | -15038 |
| chr12 | 112630815 | 112630962 | E067 | -14439 |
| chr12 | 112630981 | 112631035 | E067 | -14366 |
| chr12 | 112631044 | 112631112 | E067 | -14289 |
| chr12 | 112631237 | 112631323 | E067 | -14078 |
| chr12 | 112631407 | 112631530 | E067 | -13871 |
| chr12 | 112631553 | 112631607 | E067 | -13794 |
| chr12 | 112599686 | 112599751 | E068 | -45650 |
| chr12 | 112600252 | 112600346 | E068 | -45055 |
| chr12 | 112600519 | 112600616 | E068 | -44785 |
| chr12 | 112600688 | 112600759 | E068 | -44642 |
| chr12 | 112600858 | 112600963 | E068 | -44438 |
| chr12 | 112614269 | 112614424 | E068 | -30977 |
| chr12 | 112620232 | 112621765 | E068 | -23636 |
| chr12 | 112621832 | 112621920 | E068 | -23481 |
| chr12 | 112622100 | 112622189 | E068 | -23212 |
| chr12 | 112622404 | 112622461 | E068 | -22940 |
| chr12 | 112622531 | 112622663 | E068 | -22738 |
| chr12 | 112623264 | 112623569 | E068 | -21832 |
| chr12 | 112623672 | 112623726 | E068 | -21675 |
| chr12 | 112629655 | 112629829 | E068 | -15572 |
| chr12 | 112629851 | 112630182 | E068 | -15219 |
| chr12 | 112599686 | 112599751 | E069 | -45650 |
| chr12 | 112600252 | 112600346 | E069 | -45055 |
| chr12 | 112600519 | 112600616 | E069 | -44785 |
| chr12 | 112600688 | 112600759 | E069 | -44642 |
| chr12 | 112600858 | 112600963 | E069 | -44438 |
| chr12 | 112619426 | 112619476 | E069 | -25925 |
| chr12 | 112620232 | 112621765 | E069 | -23636 |
| chr12 | 112621832 | 112621920 | E069 | -23481 |
| chr12 | 112622100 | 112622189 | E069 | -23212 |
| chr12 | 112622404 | 112622461 | E069 | -22940 |
| chr12 | 112622531 | 112622663 | E069 | -22738 |
| chr12 | 112623264 | 112623569 | E069 | -21832 |
| chr12 | 112623672 | 112623726 | E069 | -21675 |
| chr12 | 112628436 | 112628831 | E069 | -16570 |
| chr12 | 112628888 | 112629488 | E069 | -15913 |
| chr12 | 112629655 | 112629829 | E069 | -15572 |
| chr12 | 112629851 | 112630182 | E069 | -15219 |
| chr12 | 112630242 | 112630363 | E069 | -15038 |
| chr12 | 112630815 | 112630962 | E069 | -14439 |
| chr12 | 112630981 | 112631035 | E069 | -14366 |
| chr12 | 112631044 | 112631112 | E069 | -14289 |
| chr12 | 112631237 | 112631323 | E069 | -14078 |
| chr12 | 112631407 | 112631530 | E069 | -13871 |
| chr12 | 112631553 | 112631607 | E069 | -13794 |
| chr12 | 112620232 | 112621765 | E070 | -23636 |
| chr12 | 112621832 | 112621920 | E070 | -23481 |
| chr12 | 112622100 | 112622189 | E070 | -23212 |
| chr12 | 112622404 | 112622461 | E070 | -22940 |
| chr12 | 112622531 | 112622663 | E070 | -22738 |
| chr12 | 112623264 | 112623569 | E070 | -21832 |
| chr12 | 112623672 | 112623726 | E070 | -21675 |
| chr12 | 112599289 | 112599362 | E071 | -46039 |
| chr12 | 112599373 | 112599496 | E071 | -45905 |
| chr12 | 112599543 | 112599597 | E071 | -45804 |
| chr12 | 112599686 | 112599751 | E071 | -45650 |
| chr12 | 112600252 | 112600346 | E071 | -45055 |
| chr12 | 112600519 | 112600616 | E071 | -44785 |
| chr12 | 112600688 | 112600759 | E071 | -44642 |
| chr12 | 112600858 | 112600963 | E071 | -44438 |
| chr12 | 112620232 | 112621765 | E071 | -23636 |
| chr12 | 112621832 | 112621920 | E071 | -23481 |
| chr12 | 112622100 | 112622189 | E071 | -23212 |
| chr12 | 112622404 | 112622461 | E071 | -22940 |
| chr12 | 112622531 | 112622663 | E071 | -22738 |
| chr12 | 112623264 | 112623569 | E071 | -21832 |
| chr12 | 112623672 | 112623726 | E071 | -21675 |
| chr12 | 112629655 | 112629829 | E071 | -15572 |
| chr12 | 112629851 | 112630182 | E071 | -15219 |
| chr12 | 112630242 | 112630363 | E071 | -15038 |
| chr12 | 112630815 | 112630962 | E071 | -14439 |
| chr12 | 112630981 | 112631035 | E071 | -14366 |
| chr12 | 112631044 | 112631112 | E071 | -14289 |
| chr12 | 112631237 | 112631323 | E071 | -14078 |
| chr12 | 112631407 | 112631530 | E071 | -13871 |
| chr12 | 112631553 | 112631607 | E071 | -13794 |
| chr12 | 112599289 | 112599362 | E072 | -46039 |
| chr12 | 112599373 | 112599496 | E072 | -45905 |
| chr12 | 112599543 | 112599597 | E072 | -45804 |
| chr12 | 112599686 | 112599751 | E072 | -45650 |
| chr12 | 112600252 | 112600346 | E072 | -45055 |
| chr12 | 112600519 | 112600616 | E072 | -44785 |
| chr12 | 112600688 | 112600759 | E072 | -44642 |
| chr12 | 112600858 | 112600963 | E072 | -44438 |
| chr12 | 112601321 | 112601371 | E072 | -44030 |
| chr12 | 112620232 | 112621765 | E072 | -23636 |
| chr12 | 112621832 | 112621920 | E072 | -23481 |
| chr12 | 112622100 | 112622189 | E072 | -23212 |
| chr12 | 112622404 | 112622461 | E072 | -22940 |
| chr12 | 112622531 | 112622663 | E072 | -22738 |
| chr12 | 112623264 | 112623569 | E072 | -21832 |
| chr12 | 112623672 | 112623726 | E072 | -21675 |
| chr12 | 112635994 | 112636401 | E072 | -9000 |
| chr12 | 112636491 | 112636551 | E072 | -8850 |
| chr12 | 112599373 | 112599496 | E073 | -45905 |
| chr12 | 112599543 | 112599597 | E073 | -45804 |
| chr12 | 112599686 | 112599751 | E073 | -45650 |
| chr12 | 112620232 | 112621765 | E073 | -23636 |
| chr12 | 112621832 | 112621920 | E073 | -23481 |
| chr12 | 112622100 | 112622189 | E073 | -23212 |
| chr12 | 112622404 | 112622461 | E073 | -22940 |
| chr12 | 112622531 | 112622663 | E073 | -22738 |
| chr12 | 112623264 | 112623569 | E073 | -21832 |
| chr12 | 112623672 | 112623726 | E073 | -21675 |
| chr12 | 112599686 | 112599751 | E074 | -45650 |
| chr12 | 112600252 | 112600346 | E074 | -45055 |
| chr12 | 112600519 | 112600616 | E074 | -44785 |
| chr12 | 112600688 | 112600759 | E074 | -44642 |
| chr12 | 112600858 | 112600963 | E074 | -44438 |
| chr12 | 112601321 | 112601371 | E074 | -44030 |
| chr12 | 112601425 | 112601522 | E074 | -43879 |
| chr12 | 112601631 | 112601681 | E074 | -43720 |
| chr12 | 112620232 | 112621765 | E074 | -23636 |
| chr12 | 112621832 | 112621920 | E074 | -23481 |
| chr12 | 112622100 | 112622189 | E074 | -23212 |
| chr12 | 112622404 | 112622461 | E074 | -22940 |
| chr12 | 112622531 | 112622663 | E074 | -22738 |
| chr12 | 112623264 | 112623569 | E074 | -21832 |
| chr12 | 112628888 | 112629488 | E074 | -15913 |
| chr12 | 112629655 | 112629829 | E074 | -15572 |
| chr12 | 112629851 | 112630182 | E074 | -15219 |
| chr12 | 112630242 | 112630363 | E074 | -15038 |
| chr12 | 112630815 | 112630962 | E074 | -14439 |
| chr12 | 112630981 | 112631035 | E074 | -14366 |
| chr12 | 112631044 | 112631112 | E074 | -14289 |
| chr12 | 112631237 | 112631323 | E074 | -14078 |
| chr12 | 112631407 | 112631530 | E074 | -13871 |
| chr12 | 112631553 | 112631607 | E074 | -13794 |
| chr12 | 112631869 | 112631919 | E074 | -13482 |
| chr12 | 112623264 | 112623569 | E081 | -21832 |