Genetics Genetics Research
CHROMOSOME 16 ABCC1 16p13.11 GENE VIEW ABCC1 · 16p13.11 16p14 16p12 rs45511401 — ~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 rs45511401 Glycine 671 → Valine G / T · ABCC1 · 16p13.11 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T G Guanine — reference allele T Thymine — variant allele genetics.jdge.cc

rs45511401

Glycine 671 → Valine Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group) Chr 16:16079375 16p13.11 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.953636T 0.046364GG 0.909749GT/TG 0.087773TT 0.002477pop=603,032 ↬
African G 0.98836T 0.01164GG 0.976792GT/TG 0.023138TT 0.00007pop=56,962
African American G 0.98813T 0.01187GG 0.976331GT/TG 0.023597TT 0.000073pop=55,008
African Others G 0.9949T 0.0051GG 0.989765GT/TG 0.010235TT 0pop=1,954
Asian G 0.99812T 0.00188GG 0.996482GT/TG 0.003267TT 0.000251pop=15,918
East Asian G 0.99975T 0.00025GG 0.999498GT/TG 0.000502TT 0pop=11,964
European G 0.94597T 0.05403GG 0.894951GT/TG 0.102039TT 0.00301pop=469,780
Latin American 1 G 0.9682T 0.0318GG 0.937574GT/TG 0.061249TT 0.001178pop=8,490
Latin American 2 G 0.97969T 0.02031GG 0.959907GT/TG 0.039576TT 0.000517pop=15,464
Other G 0.96213T 0.03787GG 0.925919GT/TG 0.072429TT 0.001652pop=32,694
Other Asian G 0.9932T 0.0068GG 0.987355GT/TG 0.011634TT 0.001012pop=3,954
South Asian G 0.9834T 0.0166GG 0.966702GT/TG 0.033298TT 0pop=3,724

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