Genetics Genetics Research
CHROMOSOME 8 NRG1 8p12 GENE VIEW NRG1 · 8p12 8p13 8p11 rs6994992 — ~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 rs6994992 C / A · NRG1 · 8p12 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs6994992

Gene: NRG1 — Neuregulin 1 Chr 8:31638065 8p12 2KB upstream variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.602247T 0.397753CC 0.365819CT/TC 0.472856TT 0.161325pop=419,426 ↬
African C 0.59737T 0.40263CC 0.358959CT/TC 0.476814TT 0.164226pop=44,122
African American C 0.59725T 0.40275CC 0.358709CT/TC 0.477087TT 0.164204pop=42,508
African Others C 0.6004T 0.3996CC 0.365551CT/TC 0.469641TT 0.164808pop=1,614
Asian C 0.4678T 0.5322CC 0.220449CT/TC 0.494607TT 0.284944pop=9,272
East Asian C 0.4552T 0.5448CC 0.208556CT/TC 0.493316TT 0.298128pop=7,480
European C 0.603811T 0.396189CC 0.366943CT/TC 0.473735TT 0.159322pop=333,376
Latin American 1 C 0.6296T 0.3704CC 0.399028CT/TC 0.461123TT 0.139849pop=7,408
Latin American 2 C 0.66654T 0.33346CC 0.449652CT/TC 0.433777TT 0.116571pop=13,228
Other C 0.59934T 0.40066CC 0.365222CT/TC 0.468234TT 0.166544pop=10,892
Other Asian C 0.5201T 0.4799CC 0.270089CT/TC 0.5TT 0.229911pop=1,792
South Asian C 0.531T 0.469CC 0.301418CT/TC 0.45922TT 0.239362pop=1,128

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