Genetics Genetics Research
CHROMOSOME 22 C1QTNF6 22q12.3 GENE VIEW C1QTNF6 · 22q12.3 22q11 22q13 rs229533 — ~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 rs229533 A / C · C1QTNF6 · 22q12.3 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

rs229533

Gene: C1QTNF6 — C1q And TNF Related 6 Chr 22:37191071 22q12.3 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.51734C 0.48266AA 0.276475AC/CA 0.481729CC 0.241797pop=56,866 ↬
African A 0.36834C 0.63166AA 0.134511AC/CA 0.46765CC 0.397838pop=13,694
African American A 0.36924C 0.63076AA 0.135217AC/CA 0.468047CC 0.396737pop=13,238
African Others A 0.342C 0.658AA 0.114035AC/CA 0.45614CC 0.429825pop=456
Asian A 0.318C 0.682AA 0.133758AC/CA 0.369427CC 0.496815pop=314
East Asian A 0.313C 0.687AA 0.126984AC/CA 0.373016CC 0.5pop=252
European A 0.57215C 0.42785AA 0.328413AC/CA 0.487478CC 0.184109pop=38,890
Latin American 1 A 0.481C 0.519AA 0.222222AC/CA 0.518519CC 0.259259pop=270
Latin American 2 A 0.53C 0.47AA 0.284783AC/CA 0.491304CC 0.223913pop=920
Other A 0.5049C 0.4951AA 0.266014AC/CA 0.477769CC 0.256217pop=2,654
Other Asian A 0.34C 0.66AA 0.16129AC/CA 0.354839CC 0.483871pop=62
South Asian A 0.532C 0.468AA 0.306452AC/CA 0.451613CC 0.241935pop=124

Studies0

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