Genetics Genetics Research
CHROMOSOME 8 NRG1 8p12 GENE VIEW NRG1 · 8p12 8p13 8p11 rs3924999 — ~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 rs3924999 Arginine 17 → Glutamine G / A · NRG1 · 8p12 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

rs3924999

Arginine 17 → Glutamine Gene: NRG1 — Neuregulin 1 Chr 8:32595840 8p12 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.627499A 0.372501GG 0.405435GA/AG 0.444127AA 0.150438pop=761,192 ↬
African G 0.88158A 0.11842GG 0.777682GA/AG 0.207804AA 0.014514pop=69,864
African American G 0.87926A 0.12074GG 0.773404GA/AG 0.211715AA 0.014881pop=67,468
African Others G 0.947A 0.053GG 0.898164GA/AG 0.097663AA 0.004174pop=2,396
Asian G 0.23113A 0.76887GG 0.054693GA/AG 0.352878AA 0.592429pop=16,748
East Asian G 0.21734A 0.78266GG 0.047482GA/AG 0.339707AA 0.612811pop=12,552
European G 0.61237A 0.38763GG 0.376239GA/AG 0.472261AA 0.1515pop=597,030
Latin American 1 G 0.67707A 0.32293GG 0.458198GA/AG 0.437749AA 0.104054pop=11,052
Latin American 2 G 0.56721A 0.43279GG 0.327891GA/AG 0.478639AA 0.19347pop=20,458
Other G 0.59732A 0.40268GG 0.369606GA/AG 0.455427AA 0.174966pop=37,310
Other Asian G 0.2724A 0.7276GG 0.076263GA/AG 0.392278AA 0.531459pop=4,196
South Asian G 0.5967A 0.4033GG 0.364032GA/AG 0.465292AA 0.170676pop=8,730

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