Genetics Genetics Research
CHROMOSOME 12 INTERGENIC GENE VIEW INTERGENIC ?q23 ?q25 rs12580100 — ~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 rs12580100 A / G · INTERGENIC HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs12580100

Gene: INTERGENIC — Intergenic / Genome-wide Chr 12:56045425
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.86183G 0.13817AA 0.744219AG/GA 0.235222GG 0.020559pop=723,970 ↬
African A 0.88108G 0.11892AA 0.775803AG/GA 0.210564GG 0.013633pop=67,628
African American A 0.88063G 0.11937AA 0.775099AG/GA 0.211054GG 0.013848pop=65,282
African Others A 0.8939G 0.1061AA 0.795396AG/GA 0.196931GG 0.007673pop=2,346
Asian A 0.73379G 0.26621AA 0.544439AG/GA 0.378693GG 0.076868pop=16,652
East Asian A 0.73287G 0.26713AA 0.541613AG/GA 0.382522GG 0.075864pop=12,496
European A 0.870618G 0.129382AA 0.757999AG/GA 0.225239GG 0.016762pop=569,964
Latin American 1 A 0.84901G 0.15099AA 0.722326AG/GA 0.253366GG 0.024308pop=10,696
Latin American 2 A 0.77337G 0.22663AA 0.599548AG/GA 0.347634GG 0.052818pop=20,372
Other A 0.84035G 0.15965AA 0.709561AG/GA 0.261575GG 0.028863pop=29,934
Other Asian A 0.7365G 0.2635AA 0.552936AG/GA 0.36718GG 0.079885pop=4,156
South Asian A 0.6788G 0.3212AA 0.464007AG/GA 0.429619GG 0.106373pop=8,724

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