Genetics Genetics Research
CHROMOSOME 16 ABCC1 16p13.11 GENE VIEW ABCC1 · 16p13.11 16p14 16p12 rs246240 — ~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 rs246240 A / G · ABCC1 · 16p13.11 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs246240

Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group) Chr 16:16025167 16p13.11 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.844891G 0.155109AA 0.715738AG/GA 0.258305GG 0.025957pop=705,948 ↬
African A 0.91254G 0.08746AA 0.832921AG/GA 0.159246GG 0.007833pop=58,212
African American A 0.91196G 0.08804AA 0.831975AG/GA 0.15998GG 0.008045pop=56,182
African Others A 0.9286G 0.0714AA 0.859113AG/GA 0.138916GG 0.00197pop=2,030
Asian A 0.64397G 0.35603AA 0.414188AG/GA 0.459573GG 0.126239pop=14,322
East Asian A 0.62824G 0.37176AA 0.394139AG/GA 0.468206GG 0.137655pop=11,260
European A 0.845798G 0.154202AA 0.715642AG/GA 0.260311GG 0.024046pop=577,632
Latin American 1 A 0.8526G 0.1474AA 0.729829AG/GA 0.245518GG 0.024654pop=9,816
Latin American 2 A 0.75929G 0.24071AA 0.579748AG/GA 0.359083GG 0.061169pop=18,408
Other A 0.8254G 0.1746AA 0.685717AG/GA 0.279374GG 0.034908pop=18,792
Other Asian A 0.7018G 0.2982AA 0.487916AG/GA 0.427825GG 0.084259pop=3,062
South Asian A 0.877G 0.123AA 0.770705AG/GA 0.21264GG 0.016655pop=8,766

Studies0

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