Genetics Genetics Research
CHROMOSOME 14 AKT1 14q32.33 GENE VIEW AKT1 · 14q32.33 14q31 14q33 rs3803304 — ~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 rs3803304 C / A · AKT1 · 14q32.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs3803304

Gene: AKT1 — AKT Serine/Threonine Kinase 1 Chr 14:104772809 14q32.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.76027G 0.23973CC 0.581348CG/GC 0.357852GG 0.060799pop=24,770 ↬
African C 0.8192G 0.1808CC 0.671587CG/GC 0.295203GG 0.03321pop=5,420
African American C 0.8189G 0.1811CC 0.670755CG/GC 0.296282GG 0.032963pop=5,218
African Others C 0.827G 0.173CC 0.693069CG/GC 0.267327GG 0.039604pop=202
Asian C 0.906G 0.094CC 0.8125CG/GC 0.1875GG 0pop=128
East Asian C 0.89G 0.11CC 0.787234CG/GC 0.212766GG 0pop=94
European C 0.74192G 0.25808CC 0.553401CG/GC 0.377041GG 0.069557pop=17,022
Latin American 1 C 0.776G 0.224CC 0.577586CG/GC 0.396552GG 0.025862pop=232
Latin American 2 C 0.725G 0.275CC 0.530806CG/GC 0.388626GG 0.080569pop=844
Other C 0.7622G 0.2378CC 0.58317CG/GC 0.358121GG 0.058708pop=1,022
Other Asian C 0.94G 0.06CC 0.882353CG/GC 0.117647GG 0pop=34
South Asian C 0.745G 0.255CC 0.568627CG/GC 0.352941GG 0.078431pop=102

Studies0

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

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Unused Studies0 ▼

No unused studies.