Genetics Genetics Research
CHROMOSOME 10 ABCC2 10q24.2 GENE VIEW ABCC2 · 10q24.2 10q23 10q25 rs8187710 — ~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 rs8187710 Cysteine 1515 → Tyrosine 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

rs8187710

Cysteine 1515 → Tyrosine Gene: ABCC2 — ATP Binding Cassette Subfamily C Member 2 Chr 10:99851537 10q24.2 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total G 0.932659A 0.067341GG 0.871417GA/AG 0.122484AA 0.0061pop=777,768 ↬
African G 0.84304A 0.15696GG 0.711478GA/AG 0.263128AA 0.025394pop=70,726
African American G 0.84381A 0.15619GG 0.71267GA/AG 0.262277AA 0.025053pop=68,256
African Others G 0.8219A 0.1781GG 0.678543GA/AG 0.28664AA 0.034818pop=2,470
Asian G 0.9975A 0.0025GG 0.994992GA/AG 0.005008AA 0pop=16,774
East Asian G 0.99952A 0.00048GG 0.999046GA/AG 0.000954AA 0pop=12,578
European G 0.940433A 0.059567GG 0.884978GA/AG 0.110911AA 0.004111pop=612,456
Latin American 1 G 0.89266A 0.10734GG 0.799602GA/AG 0.186122AA 0.014275pop=11,068
Latin American 2 G 0.95656A 0.04344GG 0.914785GA/AG 0.083553AA 0.001661pop=20,466
Other G 0.93321A 0.06679GG 0.872649GA/AG 0.121117AA 0.006234pop=37,534
Other Asian G 0.9914A 0.0086GG 0.982841GA/AG 0.017159AA 0pop=4,196
South Asian G 0.9809A 0.0191GG 0.96226GA/AG 0.037283AA 0.000457pop=8,744

Studies0

Unread Studies0 ▼

No new studies.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.