Genetics Genetics Research
CHROMOSOME 8 NRG1 8p12 GENE VIEW NRG1 · 8p12 8p13 8p11 rs2439302 — ~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 rs2439302 G / C · NRG1 · 8p12 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C G Guanine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs2439302

Gene: NRG1 — Neuregulin 1 Chr 8:32574851 8p12 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.44243C 0.55757GG 0.200049GC/CG 0.484756CC 0.315195pop=89,938 ↬
African G 0.4688C 0.5312GG 0.22467GC/CG 0.488357CC 0.286973pop=6,356
African American G 0.468C 0.532GG 0.223425GC/CG 0.489173CC 0.287402pop=6,096
African Others G 0.488C 0.512GG 0.253846GC/CG 0.469231CC 0.276923pop=260
Asian G 0.2119C 0.7881GG 0.054523GC/CG 0.314746CC 0.630731pop=3,228
East Asian G 0.193C 0.807GG 0.04528GC/CG 0.295472CC 0.659248pop=2,606
European G 0.45002C 0.54998GG 0.204237GC/CG 0.491575CC 0.304188pop=76,558
Latin American 1 G 0.434C 0.566GG 0.196911GC/CG 0.474903CC 0.328185pop=518
Latin American 2 G 0.5214C 0.4786GG 0.271429GC/CG 0.5CC 0.228571pop=1,120
Other G 0.4053C 0.5947GG 0.161702GC/CG 0.487234CC 0.351064pop=1,880
Other Asian G 0.291C 0.709GG 0.093248GC/CG 0.395498CC 0.511254pop=622
South Asian G 0.371C 0.629GG 0.151079GC/CG 0.438849CC 0.410072pop=278

Studies0

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