Genetics Genetics Research
CHROMOSOME 20 CHRNA4 20q13.33 GENE VIEW CHRNA4 · 20q13.33 20q12 20q14 rs796052317 — ~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 rs796052317 Tryptophan 182 → Glycine A / C · CHRNA4 · 20q13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs796052317

Tryptophan 182 → Glycine Gene: CHRNA4 — Cholinergic Receptor Nicotinic Alpha 4 Subunit Chr 20:63350867 20q13.33 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Total A 0.999991G 0.000009AA 0.999982AG/GA 0.000018GG 0pop=221,880 ↬
European A 0.999989G 0.000011AA 0.999978AG/GA 0.000022GG 0pop=185,030

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