Genetics Genetics Research
CHROMOSOME 16 APOBR 16p12.1 GENE VIEW APOBR · 16p12.1 16p13 16p11 rs151234 — ~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 rs151234 G / A · APOBR · 16p12.1 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

rs151234

Gene: APOBR — Apolipoprotein B Receptor Chr 16:28494339 16p12.1 2KB upstream variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies8

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Total G 0.95755C 0.04245GG 0.920019GC/CG 0.075058CC 0.004923pop=21,530 ↬
African G 0.9794C 0.0206GG 0.958801GC/CG 0.041199CC 0pop=5,340
African American G 0.979C 0.021GG 0.957993GC/CG 0.042007CC 0pop=5,142
African Others G 0.99C 0.01GG 0.979798GC/CG 0.020202CC 0pop=198
European G 0.94866C 0.05134GG 0.904278GC/CG 0.088756CC 0.006967pop=14,354
Latin American 1 G 0.979C 0.021GG 0.958333GC/CG 0.041667CC 0pop=192
Latin American 2 G 0.965C 0.035GG 0.932011GC/CG 0.065156CC 0.002833pop=706
Other G 0.951C 0.049GG 0.907928GC/CG 0.086957CC 0.005115pop=782

Studies0

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