Genetics Genetics Research
CHROMOSOME 10 ABCC2 10q24.2 GENE VIEW ABCC2 · 10q24.2 10q23 10q25 rs786205465 — ~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 rs786205465 Glycine 758 → Valine G / T · ABCC2 · 10q24.2 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

rs786205465

Glycine 758 → Valine Gene: ABCC2 — ATP Binding Cassette Subfamily C Member 2 Chr 10:99818791 10q24.2 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Total G 0.999995T 0.000005GG 0.999989GT/TG 0.000011TT 0pop=187,110 ↬
European G 0.999994T 0.000006GG 0.999987GT/TG 0.000013TT 0pop=158,774

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