Genetics Genetics Research
CHROMOSOME 1 CHRNB2 1q21.3 GENE VIEW CHRNB2 · 1q21.3 1q20 1q22 rs2072661 — ~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 rs2072661 G / A · CHRNB2 · 1q21.3 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

rs2072661

Gene: CHRNB2 — Cholinergic Receptor Nicotinic Beta 2 Subunit Chr 1:154576404 1q21.3 Non Coding Transcript Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.75467A 0.24533GG 0.570501GA/AG 0.368347AA 0.061152pop=96,382 ↬
African G 0.72144A 0.27856GG 0.520015GA/AG 0.402851AA 0.077134pop=21,184
African American G 0.72148A 0.27852GG 0.520112GA/AG 0.402733AA 0.077154pop=20,634
African Others G 0.72A 0.28GG 0.516364GA/AG 0.407273AA 0.076364pop=550
Asian G 0.723A 0.277GG 0.532239GA/AG 0.381594AA 0.086166pop=3,412
East Asian G 0.7302A 0.2698GG 0.542027GA/AG 0.376277AA 0.081697pop=2,546
European G 0.7655A 0.2345GG 0.58563GA/AG 0.359733AA 0.054637pop=58,788
Latin American 1 G 0.7413A 0.2587GG 0.5599GA/AG 0.362729AA 0.077371pop=2,404
Latin American 2 G 0.7921A 0.2079GG 0.624417GA/AG 0.335312AA 0.040271pop=4,718
Other G 0.7532A 0.2468GG 0.575282GA/AG 0.355878AA 0.068841pop=4,968
Other Asian G 0.702A 0.298GG 0.503464GA/AG 0.397229AA 0.099307pop=866
South Asian G 0.797A 0.203GG 0.634361GA/AG 0.325991AA 0.039648pop=908

Studies0

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