Genetics Genetics Research
CHROMOSOME 10 ABCC2 10q24.2 GENE VIEW ABCC2 · 10q24.2 10q23 10q25 rs4148396 — ~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 rs4148396 T / C · ABCC2 · 10q24.2 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

rs4148396

Gene: ABCC2 — ATP Binding Cassette Subfamily C Member 2 Chr 10:99832187 10q24.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.373871C 0.626129TT 0.140625TC/CT 0.466493CC 0.392882pop=521,658 ↬
African T 0.29109C 0.70891TT 0.08522TC/CT 0.411744CC 0.503036pop=55,996
African American T 0.29198C 0.70802TT 0.085569TC/CT 0.412821CC 0.50161pop=54,038
African Others T 0.2666C 0.7334TT 0.075587TC/CT 0.382022CC 0.54239pop=1,958
Asian T 0.2303C 0.7697TT 0.052249TC/CT 0.356062CC 0.591689pop=9,914
East Asian T 0.224C 0.776TT 0.050177TC/CT 0.347705CC 0.602118pop=7,932
European T 0.390645C 0.609355TT 0.151829TC/CT 0.477632CC 0.370539pop=408,394
Latin American 1 T 0.3477C 0.6523TT 0.124294TC/CT 0.44678CC 0.428927pop=8,850
Latin American 2 T 0.36119C 0.63881TT 0.129708TC/CT 0.462971CC 0.407322pop=19,012
Other T 0.35412C 0.64588TT 0.12727TC/CT 0.4537CC 0.41903pop=13,326
Other Asian T 0.2553C 0.7447TT 0.060545TC/CT 0.389506CC 0.54995pop=1,982
South Asian T 0.3649C 0.6351TT 0.129744TC/CT 0.470321CC 0.399935pop=6,166

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