rs3782886

This is a synonymous variant in the BRAP gene — it does not change the protein's amino acid sequence.

▶

GWAS Catalog Trait Associations (11)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

mean corpuscular hemoglobin concentration

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele T

OR 0.13

p 1.0e-108

N 119,629

Large GWAS

East Asian

erythrocyte volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele T

OR 0.11

p 4.0e-72

N 121,047

Large GWAS

East Asian

high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele C

OR 0.08

p 4.0e-45

N 146,492

Large GWAS

East Asian

body weight

Cho HW et al. “A Genome-Wide Association Study of Novel Genetic Variants Associated With Anthropometric Traits in Koreans.” Frontiers in Genetics 12:669215 (2021)

Allele G

OR 0.01

p 7.0e-20

N 5,472

Large GWAS

East Asian

alcohol use disorder measurement, longitudinal alcohol consumption measurement

Kranzler HR et al. “Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.” Nature Communications 10(1):1499 (2019)

Allele C

OR 0.60

p 5.0e-17

N 272,842

Large GWAS

multi-ancestry

myocardial infarction

Yamada Y et al. “Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.” International Journal of Molecular Medicine 42(5):2415-2436 (2018)

Allele G

OR 1.49

p 6.0e-17

N 6,926

Large GWAS

East Asian

Hirokawa M et al. “A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.” European Journal of Human Genetics : Ejhg 23(3):374-80 (2015)

Allele G

OR 1.46

p 1.0e-14

N 4,864

Large GWAS

East Asian

body height

Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)

Allele T

OR 0.04

p 5.0e-16

N 67,452

Large GWAS

East Asian

carbohydrate intake measurement

Nakamura Y et al. “A genome-wide association study on adherence to low-carbohydrate diets in Japanese.” European Journal of Clinical Nutrition 76(8):1103-1110 (2022)

Allele C

OR —

p 4.0e-14

N 14,076

Large GWAS

East Asian

uric acid measurement

Yasukochi Y et al. “Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.” Molecular Genetics and Genomics : Mgg 293(2):371-379 (2018)

Allele C

OR 8.93

p 4.0e-11

N 5,847

Large GWAS

East Asian

serum alanine aminotransferase amount

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)

Allele G

OR 0.08

p 5.0e-9

N 14,402

Large GWAS

East Asian

▶

Research that mentions this SNP (2)

▶

ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.

AssociationN=313Quillen EE et al.(2014)· American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Genome-wide association study of alcohol dependence and related phenotypes in 313 males from extended Han Chinese pedigrees in Northern Hunan Province. ALDH2 rs671 (Glu504Lys) was identified as the major genetic determinant, with genome-wide significant associations for alcohol dependence (p=4.73×10⁻⁸), maximum drinks in 24 hours (p=1.54×10⁻¹⁶), and facial flushing response (p=4.75×10⁻²⁶). The rs671 variant explained 7.9% of AD phenotypic variation, 22.9% of maximum drinks variation, and 29.2% of flushing response variation. A previously reported candidate SNP rs10774610 in CCDC63 was confirmed but shown to result from linkage disequilibrium with ALDH2.

Traits studied:Alcohol consumption (maximum drinks in 24 hours)Alcohol dependenceFacial flushing response to alcohol

PubMed DOI Metascience Observatory

▶

Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication

AssociationN=1,371Byung Lae Park et al.(2013)· Human Genetics

This GWAS and replication study in a Korean cohort identified genetic associations with alcohol dependence (AD), with the ADH gene cluster on chromosome 4q22-q23 and ALDH2 on 12q24 showing the strongest signals. The most significant finding was ADH1B rs1229984 (H47R) with p=2.63×10⁻²¹ and OR=2.35 in the replication cohort of 975 subjects. Conditional analyses revealed that ADH1B rs1229984 is likely the sole functional marker driving effects across the ADH cluster.

Traits studied:Alcohol dependence

PubMed DOI Metascience Observatory

About BRAP

The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]

rs3782886

GWAS Catalog Trait Associations (11)

mean corpuscular hemoglobin concentration

erythrocyte volume

high density lipoprotein cholesterol measurement

body weight

alcohol use disorder measurement, longitudinal alcohol consumption measurement

myocardial infarction

body height

carbohydrate intake measurement

uric acid measurement

serum alanine aminotransferase amount

Research that mentions this SNP (2)

About BRAP

Community Wiki

Comments