Genetics Genetics Research
CHROMOSOME 7 ADCY1 7p12.3 GENE VIEW ADCY1 · 7p12.3 7p13 7p11 rs117433119 — ~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 rs117433119 A / C · ADCY1 · 7p12.3 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

rs117433119

Gene: ADCY1 — Adenylate Cyclase 1 Chr 7:45625342 7p12.3 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies10

Sort by
Total A 0.98727C 0.01273AA 0.974739AC/CA 0.025062CC 0.000198pop=211,712 ↬
African A 0.9976C 0.0024AA 0.995193AC/CA 0.004807CC 0pop=14,562
African American A 0.99751C 0.00249AA 0.995024AC/CA 0.004976CC 0pop=14,068
Asian A 0.9998C 0.0002AA 0.999662AC/CA 0.000338CC 0pop=5,918
European A 0.985715C 0.014285AA 0.971659AC/CA 0.028112CC 0.000229pop=183,410
Latin American 1 A 0.996C 0.004AA 0.992832AC/CA 0.007168CC 0pop=558
Latin American 2 A 0.9962C 0.0038AA 0.992357AC/CA 0.007643CC 0pop=3,402
Other A 0.9936C 0.0064AA 0.987261AC/CA 0.012739CC 0pop=3,454
Other Asian A 0.999C 0.001AA 0.997951AC/CA 0.002049CC 0pop=976
South Asian A 0.995C 0.005AA 0.990196AC/CA 0.009804CC 0pop=408

Studies0

Unread Studies0 ▼

No new studies.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.