Genetics Genetics Research
CHROMOSOME 3 ADCY5 3q21.1 GENE VIEW ADCY5 · 3q21.1 3q20 3q22 rs864309483 — ~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 rs864309483 Arginine 68 → Tryptophan G / A · ADCY5 · 3q21.1 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

rs864309483

Arginine 68 → Tryptophan Gene: ADCY5 — Adenylate Cyclase 5 Chr 3:123352464 3q21.1 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Total G 0.999945A 0.000055GG 0.99989GA/AG 0.00011AA 0pop=162,898 ↬
European G 0.999938A 0.000062GG 0.999877GA/AG 0.000123AA 0pop=146,092

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