Genetics Genetics Research
CHROMOSOME 16 CLEC16A 16p13.13 GENE VIEW CLEC16A · 16p13.13 16p14 16p12 rs12708716 — ~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 rs12708716 A / G · CLEC16A · 16p13.13 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

rs12708716

Gene: CLEC16A — C-Type Lectin Domain Containing 16A Chr 16:11086016 16p13.13 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.643023G 0.356977AA 0.415215AG/GA 0.455616GG 0.129169pop=544,340 ↬
African A 0.57977G 0.42023AA 0.335238AG/GA 0.489073GG 0.175689pop=53,902
African American A 0.5808G 0.4192AA 0.336064AG/GA 0.489481GG 0.174455pop=52,002
African Others A 0.5516G 0.4484AA 0.312632AG/GA 0.477895GG 0.209474pop=1,900
Asian A 0.7854G 0.2146AA 0.619254AG/GA 0.332301GG 0.048445pop=16,142
East Asian A 0.7966G 0.2034AA 0.635682AG/GA 0.321839GG 0.042479pop=12,006
European A 0.641496G 0.358504AA 0.41151AG/GA 0.459973GG 0.128517pop=425,516
Latin American 1 A 0.6174G 0.3826AA 0.389748AG/GA 0.455326GG 0.154926pop=6,984
Latin American 2 A 0.76598G 0.23402AA 0.587466AG/GA 0.357025GG 0.05551pop=14,520
Other A 0.65468G 0.34532AA 0.43108AG/GA 0.447191GG 0.121729pop=23,462
Other Asian A 0.7529G 0.2471AA 0.571567AG/GA 0.362669GG 0.065764pop=4,136
South Asian A 0.6117G 0.3883AA 0.388568AG/GA 0.446251GG 0.165181pop=3,814

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