Genetics Genetics Research
CHROMOSOME 19 TYK2 19p13.2 GENE VIEW TYK2 · 19p13.2 19p14 19p12 rs12720356 — ~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 rs12720356 Isoleucine 684 → Serine A / C · TYK2 · 19p13.2 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

rs12720356

Isoleucine 684 → Serine Gene: TYK2 — Tyrosine Kinase 2 Chr 19:10359299 19p13.2 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.925466C 0.074534AA 0.857357AC/CA 0.136218CC 0.006425pop=744,236 ↬
African A 0.98323C 0.01677AA 0.966792AC/CA 0.032868CC 0.000341pop=64,562
African American A 0.98263C 0.01737AA 0.965621AC/CA 0.034026CC 0.000353pop=62,306
African Others A 0.9996C 0.0004AA 0.999113AC/CA 0.000887CC 0pop=2,256
Asian A 0.99803C 0.00197AA 0.996188AC/CA 0.003693CC 0.000119pop=16,788
East Asian A 0.99992C 0.00008AA 0.999841AC/CA 0.000159CC 0pop=12,570
European A 0.913752C 0.086248AA 0.835183AC/CA 0.157139CC 0.007678pop=587,112
Latin American 1 A 0.94495C 0.05505AA 0.893823AC/CA 0.102258CC 0.003919pop=10,718
Latin American 2 A 0.96224C 0.03776AA 0.926042AC/CA 0.072397CC 0.001561pop=20,498
Other A 0.93685C 0.06315AA 0.878558AC/CA 0.116587CC 0.004855pop=35,836
Other Asian A 0.9924C 0.0076AA 0.985301AC/CA 0.014225CC 0.000474pop=4,218
South Asian A 0.9896C 0.0104AA 0.979363AC/CA 0.020408CC 0.000229pop=8,722

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