Genetics Genetics Research
CHROMOSOME 3 ADCY5 3q21.1 GENE VIEW ADCY5 · 3q21.1 3q20 3q22 rs757156390 — ~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 rs757156390 Isoleucine 125 → Methionine 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

rs757156390

Isoleucine 125 → Methionine Gene: ADCY5 — Adenylate Cyclase 5 Chr 3:123332657 3q21.1 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies4

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Total G 0.999985A 0.000015GG 0.99997GA/AG 0.00003AA 0pop=200,038 ↬
Asian G 0.9998A 0.0002GG 0.999681GA/AG 0.000319AA 0pop=6,262
European G 0.999988A 0.000012GG 0.999976GA/AG 0.000024AA 0pop=167,750
Other Asian G 0.9991A 0.0009GG 0.998152GA/AG 0.001848AA 0pop=1,082

Studies0

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