CHROMOSOME 16 ABCC1 16p13.11 GENE VIEW ABCC1 · 16p13.11 16p14 16p12 rs2238476 — ~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 rs2238476 G / A · ABCC1 · 16p13.11 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

rs2238476

Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group) Chr 16:16120015 16p13.11 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.947082A 0.052918GG 0.897842GA/AG 0.098479AA 0.003679pop=504,006
African G 0.96079A 0.03921GG 0.923325GA/AG 0.074936AA 0.001739pop=55,194
African American G 0.96086A 0.03914GG 0.923487GA/AG 0.074747AA 0.001765pop=53,246
African Others G 0.9589A 0.0411GG 0.918891GA/AG 0.080082AA 0.001027pop=1,948
Asian G 0.95039A 0.04961GG 0.904845GA/AG 0.091085AA 0.00407pop=10,320
East Asian G 0.9528A 0.0472GG 0.908916GA/AG 0.087719AA 0.003365pop=8,322
European G 0.951155A 0.048845GG 0.904834GA/AG 0.092643AA 0.002523pop=399,490
Latin American 1 G 0.9145A 0.0855GG 0.839917GA/AG 0.149226AA 0.010857pop=8,658
Latin American 2 G 0.82762A 0.17238GG 0.687956GA/AG 0.279319AA 0.032725pop=16,440
Other G 0.93365A 0.06635GG 0.873016GA/AG 0.12127AA 0.005714pop=12,600
Other Asian G 0.9404A 0.0596GG 0.887888GA/AG 0.105105AA 0.007007pop=1,998
South Asian G 0.9448A 0.0552GG 0.892638GA/AG 0.104294AA 0.003067pop=1,304

Studies20

Unread Studies20
1
Psoriasis is a chronic, systemic, autoimmune inflammatory skin disease that affects 2-3% of the population worldwide. The clinical types of the disease differ according to the appearing …
2
Psoriasis is a chronic inflammatory skin disease with characteristic sores on the skin, called psoriatic plaques. So far, there is no definitive treatment, however an effective therapeutic …
3
Psoriasis is a chronic inflammatory disease with an established genetic background. The HLA-Cw*06 allele and different polymorphisms in genes involved in inflammatory responses …
4
… In our study, patients carrying the ABCC1 rs2238476-AG genotype showed a higher risk of … under treatment with MTX related to the ABCC1 rs2238476-GG genotype with a higher risk of …
5
We aim to investigate the correlation between gene polymorphisms and cisplatin chemotherapy-induced nausea and vomiting (CINV), which was prevented by olanzapine or …
6
… Παρόλα αυτά η παρουσία των SNPs rs35592 και rs2238476 στο γονίδιο της πρωτεΐνης-μεταφορέα ABCC1 (ATP-Binding Cassette, υποοικογένεια C, 1) καθώς και τα rs17731538 και …
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Made Putri Hendaria1, Afif Nurul Hidayati1, Evy Ervianti1, Muhammad Yulianto Listiawan1, Damayanti1, Irmadita Citrashanty1, Sylvia Anggraeni1, Menul Ayu Umborowati1, Budi …
8
The occurrence and severity of chemotherapy-induced nausea and vomiting (CINV) are influenced by many factors; this includes therapeutic factors, such as the dose, administration …
9
药物不良反应(adr) 是临床用药中常常出现的难题, 不但影响药效, 还严重威胁患者的生命安全 . 随着药物基因组学的快速发展, 个体间的基因序列差异与adr 之间的相关性不断被证实, 但是…
10
Inter-individual variation in drug efficacy and tolerability in myasthenia gravis (MG), an autoimmune disorder mostly treated by chronic immunosuppression, highlights the …
11
Methotrexate (MTX) is the first‐line treatment for psoriasis in China. The metabolic processes of MTX include various proteins and genes. Previous studies have shown that …
12
Η ψωρίαση είναι μια χρόνια, πολυπαραγοντική νόσος, η οποία φέρει αυτοάνοσα χαρακτηριστικά, επηρεάζει το δέρμα και προσβάλει περίπου 2-3% του παγκόσμιου πληθυσμού. Αν και η …
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Pharmacogenetics is the study of variations in DNA sequence related to drug response. Moreover, the evolution of biotechnology and the sequencing of human DNA have allowed the …
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Despite advancements in antiemetic prophylaxis, chemotherapy-induced nausea (CIN) continues to be a significant clinical problem. Between 30% to 60% of oncology patients …
15
… Increased PFS and not OS was reported for patients expressing the ABCC1 intronic SNPs rs246240 and rs2238476 and treated either with carboplatin plus adjuvant or cisplatin plus …
16
Adverse drug reactions (ADRs) are a major public health concern and cause significant patient morbidity and mortality. Pharmacogenomics is the study of how genetic polymorphisms …
17
Lung carcinoma is the most common malignancy and the leading cause of cancer deaths worldwide. Although clinical factors including age, performance status and stage …
18
Psoriasis is a chronic inflammatory skin disease. The cause of psoriasis is unknown, although genetics may play a key role in its development. Treatment of the disease varies with …
19
Bortezomib, a 26S proteasome inhibitor, has become a cornerstone in the treatment of multiple myeloma. However, its use is limited by a common and potentially serious …
20
Psoriasis is a complex, chronic disease with increasing global incidence. Studies on the effectiveness of psoriasis therapy in Indonesia are limited. This study aimed to …
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

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