Genetics Genetics Research
CHROMOSOME 16 ABCC1 16p13.11 GENE VIEW ABCC1 · 16p13.11 16p14 16p12 rs35592 — ~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 rs35592 T / C · ABCC1 · 16p13.11 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C T Thymine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs35592

Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group) Chr 16:16047966 16p13.11 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.712142C 0.287858TT 0.516043TC/CT 0.392198CC 0.091759pop=280,124 ↬
African T 0.50081C 0.49919TT 0.250551TC/CT 0.500527CC 0.248922pop=41,756
African American T 0.50299C 0.49701TT 0.252887TC/CT 0.500199CC 0.246914pop=40,184
African Others T 0.4453C 0.5547TT 0.19084TC/CT 0.508906CC 0.300254pop=1,572
Asian T 0.607C 0.393TT 0.370257TC/CT 0.473397CC 0.156345pop=9,172
East Asian T 0.5902C 0.4098TT 0.351116TC/CT 0.478225CC 0.170659pop=7,348
European T 0.759011C 0.240989TT 0.576285TC/CT 0.365452CC 0.058263pop=209,806
Latin American 1 T 0.686C 0.314TT 0.469972TC/CT 0.431956CC 0.098072pop=3,630
Latin American 2 T 0.707C 0.293TT 0.499043TC/CT 0.415869CC 0.085088pop=9,402
Other T 0.7058C 0.2942TT 0.498639TC/CT 0.414236CC 0.087126pop=5,142
Other Asian T 0.6743C 0.3257TT 0.447368TC/CT 0.453947CC 0.098684pop=1,824
South Asian T 0.8207C 0.1793TT 0.680921TC/CT 0.279605CC 0.039474pop=1,216

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