Genetics Genetics Research
CHROMOSOME 11 ANKK1 11q23.2 GENE VIEW ANKK1 · 11q23.2 11q22 11q24 rs2734849 — ~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 rs2734849 Histidine 490 → Proline A / C · ANKK1 · 11q23.2 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

rs2734849

Histidine 490 → Proline Gene: ANKK1 — Ankyrin Repeat And Kinase Domain Containing 1 Chr 11:113399438 11q23.2 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.544951G 0.455049AA 0.313163AG/GA 0.463575GG 0.223262pop=733,802 ↬
African A 0.83442G 0.16558AA 0.699405AG/GA 0.270021GG 0.030573pop=61,884
African American A 0.83221G 0.16779AA 0.695594AG/GA 0.273236GG 0.03117pop=59,736
African Others A 0.8957G 0.1043AA 0.8054AG/GA 0.180633GG 0.013966pop=2,148
Asian A 0.92283G 0.07717AA 0.854013AG/GA 0.137635GG 0.008352pop=16,522
East Asian A 0.93668G 0.06332AA 0.877729AG/GA 0.117904GG 0.004367pop=12,366
European A 0.491434G 0.508566AA 0.242658AG/GA 0.497551GG 0.259791pop=580,174
Latin American 1 A 0.62807G 0.37193AA 0.39659AG/GA 0.462963GG 0.140447pop=10,908
Latin American 2 A 0.72988G 0.27012AA 0.543028AG/GA 0.373705GG 0.083267pop=20,080
Other A 0.59119G 0.40881AA 0.366794AG/GA 0.448797GG 0.184409pop=35,584
Other Asian A 0.8816G 0.1184AA 0.783446AG/GA 0.196343GG 0.020212pop=4,156
South Asian A 0.6175G 0.3825AA 0.386358AG/GA 0.462197GG 0.151445pop=8,650

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