Genetics Genetics Research
CHROMOSOME 20 CHRNA4 20q13.33 GENE VIEW CHRNA4 · 20q13.33 20q12 20q14 rs1044396 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs1044396 Serine 543 → Arginine G / A · CHRNA4 · 20q13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1044396

Serine 543 → Arginine Gene: CHRNA4 — Cholinergic Receptor Nicotinic Alpha 4 Subunit Chr 20:63349782 20q13.33 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.508097A 0.491903GG 0.273379GA/AG 0.469436AA 0.257185pop=402,760 ↬
African G 0.86544A 0.13456GG 0.753741GA/AG 0.223404AA 0.022855pop=29,140
African American G 0.86259A 0.13741GG 0.748669GA/AG 0.227837AA 0.023494pop=28,178
African Others G 0.949A 0.051GG 0.902287GA/AG 0.093555AA 0.004158pop=962
Asian G 0.7221A 0.2779GG 0.530397GA/AG 0.383459AA 0.086144pop=9,310
East Asian G 0.7269A 0.2731GG 0.537457GA/AG 0.378832AA 0.083711pop=7,502
European G 0.467013A 0.532987GG 0.22011GA/AG 0.493805AA 0.286085pop=333,824
Latin American 1 G 0.6266A 0.3734GG 0.398182GA/AG 0.456749AA 0.145069pop=5,942
Latin American 2 G 0.505A 0.495GG 0.263221GA/AG 0.483458AA 0.25332pop=8,282
Other G 0.54501A 0.45499GG 0.317953GA/AG 0.454124AA 0.227924pop=15,084
Other Asian G 0.7024A 0.2976GG 0.501106GA/AG 0.402655AA 0.096239pop=1,808
South Asian G 0.5713A 0.4287GG 0.325976GA/AG 0.490662AA 0.183362pop=1,178

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