CHROMOSOME 16 ABCC1 16p13.11 GENE VIEW ABCC1 · 16p13.11 16p14 16p12 rs212091 — ~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 rs212091 T / A · ABCC1 · 16p13.11 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs212091

Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group) Chr 16:16142793 16p13.11 3 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.851439C 0.148561TT 0.726444TC/CT 0.249991CC 0.023565pop=634,158
African T 0.87863C 0.12137TT 0.773419TC/CT 0.21043CC 0.016151pop=60,058
African American T 0.8787C 0.1213TT 0.773508TC/CT 0.210378CC 0.016114pop=58,086
African Others T 0.8768C 0.1232TT 0.770791TC/CT 0.211968CC 0.017241pop=1,972
Asian T 0.76916C 0.23084TT 0.597089TC/CT 0.344141CC 0.058769pop=10,856
East Asian T 0.7487C 0.2513TT 0.56373TC/CT 0.369963CC 0.066307pop=8,536
European T 0.84736C 0.15264TT 0.719202TC/CT 0.256316CC 0.024482pop=506,976
Latin American 1 T 0.8421C 0.1579TT 0.70592TC/CT 0.272336CC 0.021744pop=9,290
Latin American 2 T 0.88946C 0.11054TT 0.791413TC/CT 0.196087CC 0.0125pop=18,400
Other T 0.85865C 0.14135TT 0.738474TC/CT 0.240362CC 0.021165pop=20,128
Other Asian T 0.8444C 0.1556TT 0.719828TC/CT 0.249138CC 0.031034pop=2,320
South Asian T 0.9189C 0.0811TT 0.84568TC/CT 0.146509CC 0.007811pop=8,450

Studies30

Unread Studies30
1
Leukocyte immunoglobulin-like receptor subfamily B member 4 (LILRB4), an emerging immune checkpoint molecule, exhibits therapeutic potential in acute myeloid leukemia (AML). …
2
Increased expression of MRP 1 in AML patients results in the efflux of drugs from the cells, preventing the patient from achieving remission or potentially leading to relapse. …
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This study was aimed at elucidating the mechanisms underlying the development of treatment resistance in patients with acute myeloid leukemia (AML) other than M3 …
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… carriers of ABCC1 rs212091 genotype AG. Moreover, ABCC1 rs212091 GG conditioned recurrent severe vomiting. Cao and colleagues reported that ABCC1 rs212091 alleles GG and …
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Karcinom prsu, geneticky heterogenní onemocnění, zůstává u žen hlavní příčinou úmrtí, a přestože mortalita postupně ale pomalu klesá, incidence opětovně roste. Terciární a kvartérní …
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This study aimed to explore the role and molecular mechanism of miR-133 in multidrug resistance in acute myeloid leukemia (AML) and provide a new theoretical basis for the treatment …
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Cancer cells frequently display intrinsic or acquired resistance to chemically diverse anticancer drugs, limiting therapeutic success. Among the main mechanisms of this multidrug …
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Simple Summary AML is a heterogeneous and complex disease. RUNX1/RUNX1T1 is a fusion oncogene resulting from the chromosomal translocation t(8;21) and plays a crucial role …
9
The use of antiretrovirals (ARVs) as oral, topical, or long-acting pre-exposure prophylaxis (PrEP) has emerged as a promising strategy for HIV prevention. Clinical trials testing Truvada …
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… Multidrug-related protein 1 (MRP1) polymorphisms rs129081, rs212090, and rs212091 predict survival in normal karyotype acute myeloid leukemia. Annals of hematology. 2020;99(9):…
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Сегодня продолжительность жизни людей с ВИЧ-инфекцией, получающих антиретровирусную терапию, сопоставима с продолжительностью жизни людей без данной …
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… SNP rs212091 GG expression was … OS for rs212091 (AA HR = 0.296, 95% CI 0.113–0.774, p = 0.013 and GG p = 0.044). Rs129081 variant CG, TT of rs212090, AA, and AG of rs212091 …
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P-glycoprotein (P-gp)-mediated multidrug resistance (MDR) is a major obstacle to successful chemotherapy for leukemia. In this study, a series of thiosemicarbazone-containing …
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Docetaxel is a widely used cytotoxic agent for treatments of various cancers. The ATP binding cassette (ABC) transporter / multidrug resistance protein (MRP) ABCC10/…
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Drug Efflux Pumps in Cancer Resistance Pathways: From Molecular Recognition and Characterization to Possible Inhibition Strategies in Chemotherapy, Volume Seven, describes the …
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… of ABCC1, rs35605 C/T and rs212091 T/C were found to be … On the other hand, the rs212091 allele was correlated with … The SNP rs212091 is located in exon 31, which includes the …
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Antiretroviral therapy (ART) saved millions from HIV-1 infection and AIDS, but some patients do not experience adequate CD4+ T cells gain despite achieving viral …
18
These studies address the urgent need to elucidate the molecular mechanisms underlying the more aggressive prostate cancer biology in African American AA men. Specifically, our …
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The phenomenon of multidrug resistance (MDR) in cancer is associated with the overexpression of the ATP-binding cassette (ABC) transporter proteins, including multidrug …
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The phenomenon of multidrug resistance (MDR) in cancer is associated with the overexpression of the ATP-binding cassette (ABC) transporter proteins, including multidrug resistance-…
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Multidrug resistance (MDR1) represents a major obstacle in the chemotherapeutic treatment of acute leukemia (AL). Adenosine triphosphate ATP-binding cassette (ABCB5) and …
22
Rheumatoid Arthritis (RA) can be considered as a typical multifactorial disease, where environmental factors can trigger the development of clinical symptoms in a genetically …
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ABCB1 (=MDR1, multidrug resistance protein 1) single nucleotide polymorphisms (SNPs) were shown to have a significant impact on therapy outcome in patients with …
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Inter-individual variations in drug responses among patients are known to cause serious problems in medicine. Genome-wide association study (GWAS) is powerful for examining single…
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We investigated the association of genetic polymorphisms in drug metabolizing enzymes (DMEs) and transporters in patients with docetaxel-induced febrile neutropenia, by a new high-…
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… Análises por regressão logística indicaram que polimorfismos nos genes ABCB1 (rs1045642) e ABCC1 (rs212091) estiveram significativamente associados com a ocorrência de falha …
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The genetic abnormalities that contribute to the etiology and prognosis of multiple myeloma (MM) are not fully understood. Polymorphisms of various genes encoding drug transporters …
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Medicine is becoming more and more tailored and that certainly applies to therapies for cancer. The researcher has looked at the genetic profile of the individual and the individual …
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Multiple Myeloma (MM) is a hematological neoplasm that represent about 1% of all hematological malignancies. Several evidences have suggested the presence of genetic factor able …
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VERA KIM Page 1 VERA KIM Frequência de polimorfismos nos genes responsáveis pela absorção, distribuição, metabolismo e excreção (ADME) de medicamentos na população …
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.

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Unused Studies0

No unused studies.