Genetics Genetics Research
CHROMOSOME 3 ADCY5 3q21.1 GENE VIEW ADCY5 · 3q21.1 3q20 3q22 rs11708067 — ~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 rs11708067 A / G · ADCY5 · 3q21.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs11708067

Gene: ADCY5 — Adenylate Cyclase 5 Chr 3:123346931 3q21.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.792088G 0.207912AA 0.629551AG/GA 0.325073GG 0.045375pop=705,976 ↬
African A 0.8485G 0.1515AA 0.718507AG/GA 0.259989GG 0.021504pop=66,126
African American A 0.84813G 0.15187AA 0.717899AG/GA 0.260471GG 0.02163pop=63,892
African Others A 0.859G 0.141AA 0.7359AG/GA 0.246195GG 0.017905pop=2,234
Asian A 0.99169G 0.00831AA 0.983622AG/GA 0.016144GG 0.000234pop=17,096
East Asian A 0.99836G 0.00164AA 0.996717AG/GA 0.003283GG 0pop=12,794
European A 0.780472G 0.219528AA 0.609688AG/GA 0.341568GG 0.048744pop=555,432
Latin American 1 A 0.81805G 0.18195AA 0.663793AG/GA 0.308511GG 0.027696pop=10,904
Latin American 2 A 0.71147G 0.28853AA 0.509783AG/GA 0.403369GG 0.086847pop=19,114
Other A 0.81135G 0.18865AA 0.663096AG/GA 0.296505GG 0.0404pop=33,416
Other Asian A 0.9719G 0.0281AA 0.944677AG/GA 0.054393GG 0.00093pop=4,302
South Asian A 0.7724G 0.2276AA 0.601852AG/GA 0.341049GG 0.057099pop=3,888

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