Genetics Genetics Research
CHROMOSOME 10 ABCC2 10q24.2 GENE VIEW ABCC2 · 10q24.2 10q23 10q25 rs72558200 — ~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 rs72558200 Arginine 1150 → Histidine G / A · ABCC2 · 10q24.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs72558200

Arginine 1150 → Histidine Gene: ABCC2 — ATP Binding Cassette Subfamily C Member 2 Chr 10:99836125 10q24.2 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies5

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Total G 0.999906A 0.000094GG 0.999812GA/AG 0.000188AA 0pop=382,596 ↬
Asian G 0.9999A 0.0001GG 0.999793GA/AG 0.000207AA 0pop=9,640
East Asian G 0.9999A 0.0001GG 0.999746GA/AG 0.000254AA 0pop=7,868
European G 0.999893A 0.000107GG 0.999786GA/AG 0.000214AA 0pop=308,244
Other G 0.99984A 0.00016GG 0.999676GA/AG 0.000324AA 0pop=12,332

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