Genetics Genetics Research
CHROMOSOME 14 AKT1 14q32.33 GENE VIEW AKT1 · 14q32.33 14q31 14q33 rs2494732 — ~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 rs2494732 T / A · AKT1 · 14q32.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs2494732

Gene: AKT1 — AKT Serine/Threonine Kinase 1 Chr 14:104772855 14q32.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total T 0.546098C 0.453902TT 0.301066TC/CT 0.490064CC 0.20887pop=339,666 ↬
African T 0.50746C 0.49254TT 0.256321TC/CT 0.502277CC 0.241402pop=43,032
African American T 0.50771C 0.49229TT 0.256063TC/CT 0.503303CC 0.240634pop=41,482
African Others T 0.5006C 0.4994TT 0.263226TC/CT 0.474839CC 0.261935pop=1,550
Asian T 0.3101C 0.6899TT 0.094711TC/CT 0.430709CC 0.47458pop=9,756
East Asian T 0.3025C 0.6975TT 0.090285TC/CT 0.424466CC 0.485249pop=7,864
European T 0.56621C 0.43379TT 0.320622TC/CT 0.491177CC 0.188202pop=266,002
Latin American 1 T 0.5318C 0.4682TT 0.282473TC/CT 0.498582CC 0.218945pop=3,526
Latin American 2 T 0.4023C 0.5977TT 0.177256TC/CT 0.45008CC 0.372664pop=7,492
Other T 0.5328C 0.4672TT 0.288297TC/CT 0.488992CC 0.222711pop=8,630
Other Asian T 0.3414C 0.6586TT 0.113108TC/CT 0.45666CC 0.430233pop=1,892
South Asian T 0.4308C 0.5692TT 0.17101TC/CT 0.519544CC 0.309446pop=1,228

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.