Genetics Genetics Research
CHROMOSOME 1 PRKACB 1p31.1 GENE VIEW PRKACB · 1p31.1 1p32 1p30 rs903263 — ~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 rs903263 G / A · PRKACB · 1p31.1 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

rs903263

Gene: PRKACB — Protein Kinase CAMP-Activated Catalytic Subunit Beta Chr 1:84156830 1p31.1 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.466169T 0.533831GG 0.221711GT/TG 0.488916TT 0.289373pop=599,358 ↬
African G 0.58592T 0.41408GG 0.343169GT/TG 0.48551TT 0.171321pop=53,070
African American G 0.58488T 0.41512GG 0.341986GT/TG 0.485791TT 0.172223pop=51,236
African Others G 0.615T 0.385GG 0.376227GT/TG 0.477644TT 0.146129pop=1,834
Asian G 0.62902T 0.37098GG 0.402853GT/TG 0.452329TT 0.144818pop=11,076
East Asian G 0.6455T 0.3545GG 0.421573GT/TG 0.447865TT 0.130562pop=8,900
European G 0.44004T 0.55996GG 0.194153GT/TG 0.491775TT 0.314072pop=488,378
Latin American 1 G 0.5274T 0.4726GG 0.282181GT/TG 0.490383TT 0.227436pop=9,462
Latin American 2 G 0.63255T 0.36745GG 0.407455GT/TG 0.450186TT 0.142359pop=17,224
Other G 0.50726T 0.49274GG 0.265815GT/TG 0.482896TT 0.251289pop=17,072
Other Asian G 0.5616T 0.4384GG 0.326287GT/TG 0.470588TT 0.203125pop=2,176
South Asian G 0.6141T 0.3859GG 0.378414GT/TG 0.471391TT 0.150195pop=3,076

Studies1

Unread Studies1 ▼
1

Identification and Characterization of a Novel Premenopausal Breast Cancer Locus and Insights into Copy Number Variations for Disease Predisposition and …

Study ↗ PDF ↗
Breast cancer is a complex multifactorial disease with the interplay of genetic, environmental and lifestyle factors contributing to the disease risk. Studies based on twins estimated that~ …

2018 · M Kumaran

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.