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rs1229984

Chromosome : 4 , Position: 99318162
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleT
Alternative Alleles:  C

Traits

Trait Variant Impact PMID Author (year)
Alcohol use disorder C
Nat Neurosci Zhou H (2020)
Problematic alcohol use C
Nat Neurosci Zhou H (2020)
Alcohol consumption (heavy vs. light/non-drinkers) C
Sci Adv Thompson A (2020)
Sodium in urine C
Unknown journal UKB Neale v2 (2018)
Weight C
Unknown journal UKB Neale v2 (2018)
Waist circumference C
Unknown journal UKB Neale v2 (2018)
Whole body fat mass C
Unknown journal UKB Neale v2 (2018)
Alcohol use disorder (consumption score) [AA] C
Nat Commun Kranzler HR (2019)
Maximum habitual alcohol consumption [EA] C
Biol Psychiatry Gelernter J (2019)
Alcohol use disorder (consumption score) [Latino] C
Nat Commun Kranzler HR (2019)
Alcohol use disorder (consumption score) [EA] C
Nat Commun Kranzler HR (2019)
Arm fat percentage (left) C
Unknown journal UKB Neale v2 (2018)
Leg fat percentage (right) C
Unknown journal UKB Neale v2 (2018)
Body fat percentage C
Unknown journal UKB Neale v2 (2018)
Alcohol intake frequency. C
Unknown journal UKB Neale v2 (2018)
Leg fat percentage (left) C
Unknown journal UKB Neale v2 (2018)
Ankle spacing width C
Unknown journal UKB Neale v2 (2018)
Problematic alcohol use (MTAG) C
Nat Neurosci Zhou H (2020)
Trunk fat mass C
Unknown journal UKB Neale v2 (2018)
Mean corpuscular volume C
Unknown journal UKB Neale v2 (2018)
Body mass index (bmi) C
Unknown journal UKB Neale v2 (2018)
Frequency of drinking alcohol C
Unknown journal UKB Neale v2 (2018)
Frequency of consuming six or more units of alcohol C
Unknown journal UKB Neale v2 (2018)
Alcohol consumption (drinks per week) [EA] C
Mol Psychiatry Jorgenson E (2017)
Amount of alcohol drunk on a typical drinking day C
Unknown journal UKB Neale v2 (2018)
Alcohol consumption (drinks per week) (MTAG) C
Nat Neurosci Zhou H (2020)
Alcohol C
Unknown journal UKB Neale v2 (2018)
Mean corpuscular haemoglobin C
Unknown journal UKB Neale v2 (2018)
Insulin-like growth factor 1 levels C
Nat Genet Sinnott-Armstrong N (2021)
Risk-taking tendency (4-domain principal component model) C
Nat Genet Karlsson Linner R (2019)
Leg fat mass (right) C
Unknown journal UKB Neale v2 (2018)
Bitter alcoholic beverage consumption C
Hum Mol Genet Zhong VW (2019)
Low density lipoprotein cholesterol levels C
Diabetes Klimentidis YC (2020)
Frequency of feeling guilt or remorse after drinking alcohol in last year C
Unknown journal UKB Neale v2 (2018)
Serum alkaline phosphatase levels C
Nat Genet Sinnott-Armstrong N (2021)
Urea levels C
Nat Genet Sinnott-Armstrong N (2021)
Leg fat mass (left) C
Unknown journal UKB Neale v2 (2018)
Frequency of inability to cease drinking in last year C
Unknown journal UKB Neale v2 (2018)
Serum total protein level C
Nat Genet Sinnott-Armstrong N (2021)
Frequency of memory loss due to drinking alcohol in last year C
Unknown journal UKB Neale v2 (2018)
Average weekly red wine intake C
Unknown journal UKB Neale v2 (2018)
Total cholesterol levels C
Nat Genet Sinnott-Armstrong N (2021)
Alcohol intake versus 10 years previously C
Unknown journal UKB Neale v2 (2018)
Serum albumin level C
Nat Genet Sinnott-Armstrong N (2021)
High light scatter reticulocyte count C
Cell Vuckovic D (2020)
Average total household income before tax C
Unknown journal UKB Neale v2 (2018)
LDL cholesterol levels C
PLoS Med Richardson TG (2020)
Alcohol use disorder (consumption score) C
Am J Psychiatry Sanchez-Roige S (2018)
Predicted visceral adipose tissue C
Nat Med Karlsson T (2019)
High light scatter reticulocyte percentage of red cells C
Cell Vuckovic D (2020)
Urinary sodium excretion C
Nat Genet Sinnott-Armstrong N (2021)
Immature fraction of reticulocytes C
Cell Vuckovic D (2020)
Vitamin D levels C
Nat Genet Sinnott-Armstrong N (2021)
Reticulocyte count C
Cell Vuckovic D (2020)
Average weekly beer plus cider intake C
Unknown journal UKB Neale v2 (2018)
Alcohol use disorder (dependence and problematic use scores) C
Am J Psychiatry Sanchez-Roige S (2018)
Apolipoprotein B levels C
PLoS Med Richardson TG (2020)
Serum 25-Hydroxyvitamin D levels C
Nat Commun Revez JA (2020)
Arm fat mass (left) C
Unknown journal UKB Neale v2 (2018)
Regular attendance at a pub or social club C
Nat Commun Day FR (2018)
Arm fat mass (right) C
Unknown journal UKB Neale v2 (2018)
Sex hormone-binding globulin levels C
Nat Med Ruth KS (2020)
Urinary sodium excretion [EA] C
Nat Commun Pazoki R (2019)
Adult body size C
BMJ Richardson TG (2020)
Alcohol dependence [EA] C
Mol Psychiatry Gelernter J (2014)
Urate levels C
Elife Sinnott-Armstrong N (2021)
Liver enzyme levels (gamma-glutamyl transferase) C
Nat Commun Pazoki R (2021)
Blood urea nitrogen levels C
Nat Genet Wuttke M (2019)
Alcohol consumed C
Unknown journal UKB Neale v2 (2018)
Alcohol consumption C
Hum Genet Kapoor M (2013)
Alcohol consumption (drinkers vs non-drinkers) C
Nat Hum Behav Matoba N (2020)
Alcohol consumption (drinkers vs non-drinkers) [EA] C
Mol Psychiatry Jorgenson E (2017)
Alcohol consumption (drinks per week) C
Nat Hum Behav Matoba N (2020)
Alcohol dependence C
Hum Genet Park BL (2013)
Alcohol dependence (desire to cut drinking) C
Genes Brain Behav Lai D (2019)
Alcohol dependence (tolerance) C
Genes Brain Behav Lai D (2019)
Alcohol dependence symptom count C
Genes Brain Behav Lai D (2019)
Alcohol use disorder [EA] C
Nat Commun Kranzler HR (2019)
Alcohol use disorder [Latino] C
Nat Commun Kranzler HR (2019)
Alcohol-related disorders C
Unknown journal UKB SAIGE (2018)
Allopurinol | treatment/medication code C
Unknown journal UKB Neale v2 (2018)
Body mass index C
Am J Hum Genet Kichaev G (2018)
Cardiovascular disease C
Am J Hum Genet Kichaev G (2018)
Cholesterol lowering medication | medication for cholesterol, blood pressure or diabetes C
Unknown journal UKB Neale v2 (2018)
Current | alcohol drinker status C
Unknown journal UKB Neale v2 (2018)
Esophageal cancer C
Gastroenterology Cui R (2009)
Ever addicted to alcohol C
Unknown journal UKB Neale v2 (2018)
Former alcohol drinker C
Unknown journal UKB Neale v2 (2018)
Gout | non-cancer illness code, self-reported C
Unknown journal UKB Neale v2 (2018)
Health precaution | reason for reducing amount of alcohol drunk C
Unknown journal UKB Neale v2 (2018)
Heel bone mineral density C
Am J Hum Genet Kichaev G (2018)
High blood pressure | vascular/heart problems diagnosed by doctor C
Unknown journal UKB Neale v2 (2018)
Hypertension | non-cancer illness code, self-reported C
Unknown journal UKB Neale v2 (2018)
Maximum habitual alcohol consumption C
Biol Psychiatry Gelernter J (2019)
Mean corpuscular hemoglobin C
Am J Hum Genet Kichaev G (2018)
Never | alcohol drinker status C
Unknown journal UKB Neale v2 (2018)
No | ever been injured or injured someone else through drinking alcohol C
Unknown journal UKB Neale v2 (2018)
No | ever had known person concerned about, or recommend reduction of, alcohol consumption C
Unknown journal UKB Neale v2 (2018)
None of the above | vascular/heart problems diagnosed by doctor C
Unknown journal UKB Neale v2 (2018)
Oral cavity and pharyngeal cancer C
Nat Genet Lesseur C (2016)
Oral cavity cancer C
Nat Genet Lesseur C (2016)
Oropharynx cancer C
Nat Genet Lesseur C (2016)
Other reason | reason for reducing amount of alcohol drunk C
Unknown journal UKB Neale v2 (2018)
Red blood cell count C
Am J Hum Genet Kichaev G (2018)
Relative fat intake C
Mol Psychiatry Meddens SFW (2020)
Systolic blood pressure C
Am J Hum Genet Kichaev G (2018)
Yes, but not in the last year | ever been injured or injured someone else through drinking alcohol C
Unknown journal UKB Neale v2 (2018)
Yes, but not in the last year | ever had known person concerned about, or recommend reduction of, alcohol consumption C
Unknown journal UKB Neale v2 (2018)

More Information

From SNPedia: "A SNP in rs1229984 encodes a form of the alcohol dehydrogenase ADH1B gene that significantly reduces the clearance rate of alcohol from the liver. This SNP is also known as Arg48His, with the (C) allele corresponding to the Arg and the (T) to the His.

Known in the literature as ADH2*2 or sometimes ADH1B*2, the allele with increased activity (meaning more rapid oxidation of ethanol to acetaldehyde) is His48, encoded by rs1229984(T). Individuals with one or especially two ADH2*2 alleles, ie genotypes rs1229984(A;G) or rs1229984(A;A) are more likely to find drinking unpleasant and have a somewhat reduced risk for alcoholism. [PMID 7635462] [PMID 21968928OA-icon.png]

Population Alleles Frequency

ethhicity frequency
African/African-American 0.9874
Latino/Admixed American 0.941
Ashkenazi Jewish 0.7517
East Asian 0.2799
European 0.9682
Other (population not assigned) 0.9511

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