Genetics Genetics Research
CHROMOSOME 10 ABCC2 10q24.2 GENE VIEW ABCC2 · 10q24.2 10q23 10q25 rs3740065 — ~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 rs3740065 A / C · ABCC2 · 10q24.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs3740065

Gene: ABCC2 — ATP Binding Cassette Subfamily C Member 2 Chr 10:99845936 10q24.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.875224G 0.124776AA 0.768816AG/GA 0.212817GG 0.018367pop=680,444 ↬
African A 0.78751G 0.21249AA 0.620291AG/GA 0.334436GG 0.045273pop=55,000
African American A 0.78802G 0.21198AA 0.620734AG/GA 0.334578GG 0.044688pop=53,034
African Others A 0.7737G 0.2263AA 0.608342AG/GA 0.330621GG 0.061038pop=1,966
Asian A 0.64366G 0.35634AA 0.413697AG/GA 0.459934GG 0.126369pop=11,506
East Asian A 0.6432G 0.3568AA 0.409438AG/GA 0.467555GG 0.123006pop=9,154
European A 0.891662G 0.108338AA 0.795751AG/GA 0.191823GG 0.012426pop=558,484
Latin American 1 A 0.8451G 0.1549AA 0.716778AG/GA 0.256599GG 0.026624pop=8,714
Latin American 2 A 0.87504G 0.12496AA 0.765733AG/GA 0.21861GG 0.015658pop=20,054
Other A 0.83364G 0.16636AA 0.702372AG/GA 0.262531GG 0.035097pop=18,634
Other Asian A 0.6454G 0.3546AA 0.430272AG/GA 0.430272GG 0.139456pop=2,352
South Asian A 0.7945G 0.2055AA 0.640338AG/GA 0.308246GG 0.051416pop=8,052

Studies0

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