Genetics Genetics Research
CHROMOSOME 11 ANKK1 11q23.2 GENE VIEW ANKK1 · 11q23.2 11q22 11q24 rs1800497 — ~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 rs1800497 Glutamic Acid 713 → Lysine G / A · ANKK1 · 11q23.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1800497

Glutamic Acid 713 → Lysine Gene: ANKK1 — Ankyrin Repeat And Kinase Domain Containing 1 Chr 11:113400106 11q23.2 Stop Gained
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.781639A 0.218361GG 0.615198GA/AG 0.332881AA 0.051921pop=360,778 ↬
African G 0.66505A 0.33495GG 0.44339GA/AG 0.443323AA 0.113287pop=29,518
African American G 0.6666A 0.3334GG 0.445073GA/AG 0.443049AA 0.111879pop=28,656
African Others G 0.614A 0.386GG 0.387471GA/AG 0.452436AA 0.160093pop=862
Asian G 0.6184A 0.3816GG 0.38587GA/AG 0.465103AA 0.149027pop=6,992
East Asian G 0.6079A 0.3921GG 0.374005GA/AG 0.467728AA 0.158267pop=4,524
European G 0.807859A 0.192141GG 0.652966GA/AG 0.309785AA 0.037249pop=276,682
Latin American 1 G 0.7504A 0.2496GG 0.565929GA/AG 0.369027AA 0.065044pop=4,520
Latin American 2 G 0.5704A 0.4296GG 0.332475GA/AG 0.475767AA 0.191758pop=8,542
Other G 0.77047A 0.22953GG 0.596603GA/AG 0.34774AA 0.055657pop=26,376
Other Asian G 0.6378A 0.3622GG 0.407618GA/AG 0.460292AA 0.132091pop=2,468
South Asian G 0.7286A 0.2714GG 0.535837GA/AG 0.385616AA 0.078547pop=8,148

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