Genetics Genetics Research
CHROMOSOME 1 ITPKB 1q42.12 GENE VIEW ITPKB · 1q42.12 1q41 1q43 rs6667260 — ~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 rs6667260 Serine 408 → Alanine A / C · ITPKB · 1q42.12 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

rs6667260

Serine 408 → Alanine Gene: ITPKB — Inositol-Trisphosphate 3-Kinase B Chr 1:226736237 1q42.12 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.509849C 0.490151AA 0.26744AC/CA 0.484819CC 0.247741pop=337,586 ↬
African A 0.43273C 0.56727AA 0.196105AC/CA 0.473249CC 0.330645pop=30,504
African American A 0.43147C 0.56853AA 0.195391AC/CA 0.472155CC 0.332455pop=29,592
African Others A 0.474C 0.526AA 0.219298AC/CA 0.508772CC 0.27193pop=912
Asian A 0.3693C 0.6307AA 0.143609AC/CA 0.451341CC 0.40505pop=3,802
East Asian A 0.3474C 0.6526AA 0.129909AC/CA 0.435045CC 0.435045pop=2,648
European A 0.53182C 0.46818AA 0.286773AC/CA 0.490094CC 0.223133pop=263,072
Latin American 1 A 0.4461C 0.5539AA 0.203633AC/CA 0.484911CC 0.311456pop=6,826
Latin American 2 A 0.305C 0.695AA 0.105479AC/CA 0.399087CC 0.495434pop=8,760
Other A 0.49212C 0.50788AA 0.253491AC/CA 0.477251CC 0.269259pop=16,616
Other Asian A 0.4194C 0.5806AA 0.175043AC/CA 0.488735CC 0.336222pop=1,154
South Asian A 0.4638C 0.5362AA 0.223333AC/CA 0.480889CC 0.295778pop=8,006

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