Genetics Genetics Research
CHROMOSOME 20 CHRNA4 20q13.33 GENE VIEW CHRNA4 · 20q13.33 20q12 20q14 rs2236196 — ~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 rs2236196 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

rs2236196

Gene: CHRNA4 — Cholinergic Receptor Nicotinic Alpha 4 Subunit Chr 20:63346204 20q13.33 Non Coding Transcript Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.306973A 0.693027GG 0.110266GA/AG 0.393414AA 0.49632pop=358,406 ↬
African G 0.63049A 0.36951GG 0.400849GA/AG 0.459291AA 0.13986pop=40,998
African American G 0.62607A 0.37393GG 0.394664GA/AG 0.462812AA 0.142524pop=39,502
African Others G 0.7473A 0.2527GG 0.564171GA/AG 0.36631AA 0.069519pop=1,496
Asian G 0.1318A 0.8682GG 0.016599GA/AG 0.230475AA 0.752926pop=9,398
East Asian G 0.1295A 0.8705GG 0.015608GA/AG 0.227778AA 0.756614pop=7,560
European G 0.267124A 0.732876GG 0.071833GA/AG 0.390582AA 0.537585pop=275,082
Latin American 1 G 0.3972A 0.6028GG 0.162257GA/AG 0.469876AA 0.367867pop=6,274
Latin American 2 G 0.18538A 0.81462GG 0.036902GA/AG 0.296951AA 0.666147pop=11,544
Other G 0.3096A 0.6904GG 0.109151GA/AG 0.400896AA 0.489952pop=13,834
Other Asian G 0.1415A 0.8585GG 0.020675GA/AG 0.241567AA 0.737758pop=1,838
South Asian G 0.4208A 0.5792GG 0.169279GA/AG 0.503135AA 0.327586pop=1,276

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