CHROMOSOME 16 ABCC1 16p13.11 GENE VIEW ABCC1 · 16p13.11 16p14 16p12 rs3784862 — ~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 rs3784862 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

rs3784862

Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group) Chr 16:16017034 16p13.11 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.271867A 0.728133GG 0.078394GA/AG 0.386945AA 0.534661pop=477,484
African G 0.31149A 0.68851GG 0.096742GA/AG 0.429495AA 0.473764pop=51,684
African American G 0.31124A 0.68876GG 0.096297GA/AG 0.429884AA 0.473819pop=49,846
African Others G 0.3183A 0.6817GG 0.108814GA/AG 0.418934AA 0.472252pop=1,838
Asian G 0.6195A 0.3805GG 0.382467GA/AG 0.474004AA 0.143529pop=7,232
East Asian G 0.629A 0.371GG 0.394215GA/AG 0.469559AA 0.136226pop=5,946
European G 0.251061A 0.748939GG 0.064057GA/AG 0.374008AA 0.561935pop=380,254
Latin American 1 G 0.28A 0.72GG 0.077813GA/AG 0.404311AA 0.517876pop=7,608
Latin American 2 G 0.38566A 0.61434GG 0.155829GA/AG 0.459664AA 0.384507pop=15,594
Other G 0.3213A 0.6787GG 0.11327GA/AG 0.416081AA 0.470649pop=9,676
Other Asian G 0.5754A 0.4246GG 0.328149GA/AG 0.494557AA 0.177294pop=1,286
South Asian G 0.4623A 0.5377GG 0.218911GA/AG 0.486755AA 0.294334pop=5,436

Studies29

Unread Studies29
1
Psoriasis is an autoimmune, multifactorial disease that affects 2-3% of the world's population. It is characterized by erythematous plaques with silvery scales on the surface of the skin …
2
… Ассоциации наличия двух полиморфизмов ― rs246240 и rs3784862 ― были расценены авторами как значимые. У пациентов с генотипом АА rs246240 и AA rs3784862 …
3
… Ассоциации наличия двух полиморфизмов — rs246240 и rs3784862 — были расценены авторами как значимые. У пациентов с генотипом АА rs246240 и AA rs3784862 …
4
… between ABCC1 variants and methotrexate concentrations in erythrocytes, finding that rs35592 was associated with lower methotrexate polyglutamate concentrations and rs3784862 …
5
Η ψωρίαση είναι μια αυτοάνοση, πολυπαραγοντική νόσος η οποία πλήττει έναν μεγάλο αριθμό ανθρώπων παγκοσμίως και εκδηλώνεται κυρίως με δερματικές αλλοιώσεις σε όλο το σώμα. …
6
目的探讨甲氨蝶呤(mtx) 治疗银屑病安全性及有效性的药物基因组学研究进展, 为其个体化 应用及相关研究提供参考. 方法采用主题字段关键词“银屑病”“甲氨蝶呤” 或“mtx”“基因” 或“药物…
7
Methotrexate (MTX) is a folate analog widely used against a range of diseases including malignancies and autoimmune disorders. Its high effectiveness‐price ratio also won extensive …
8
Psoriasis is a multifactorial, inflammatory skin disease caused by the immune system, with autoimmune pathogenic characteristics. To this date, there is no definitive cure for psoriasis, …
9
Psoriasis is a multifactorial disease with a strong genetic background. Τreatments include biological agents (eg anti-TNF inhibitors) and systemic drugs. However, not all patients …
10
Over the past 10 years, significant progress has been done in the field of drug development of autoimmune diseases as well as in the area of pharmacogenetics, including the treatment …
11
Growing evidence suggests that polymorphisms of genes coding for transporters or enzymes may partially explain the large between subject variability reported for methotrexate (MTX) …
12
For many years, a considerable number of patients with autoimmune diseases (ADs) have suffered from a lack of drug response and drug‐related toxicity. Despite the emergence of …
13
Psoriasis is a chronic autoimmune, skin disorder that affects the skin and joints and affects 1-3% of the world's population. It is characterized by red, scaled patches called psoriatic …
14
Psoriasis is a common chronic inflammatory disease that affects 2% of the population. Therapeutic intervention for psoriasis mainly targets inflammatory cascade through the use of …
15
Psoriasis is a chronic inflammatory disease triggered by both genetic and environmental factors. Systemic and biologic therapies used to treat moderate-to-severe psoriasis show …
16
Psoriasis is a chronic systemic, immune-mediated disorder of unknown aetiology, usually presenting with typical inflammatory skin lesions and/or joint manifestations, but systemic …
17
Topical, systemic, oral disease modifying, and biologic agents are part of the armamentarium to manage psoriatic disease. The choice of therapy depends upon disease …
18
In a prospective derivation (n= 285) and validation cohort (n= 102) with RA patients on MTX clinical characteristics, lifestyle variables, genetic and metabolic biomarkers …
19
Methotrexate (MTX) is a safe drug in the treatment of juvenile idiopathic arthritis (JIA). Despite its safety, MTX-related gastrointestinal adverse effects before and after MTX …
20
Antiretroviral drugs vary in their central nervous system penetration, with better penetration possibly conferring neurocognitive benefit during human immunodeficiency …
21
Methotrexate (MTX) is the cornerstone of treatment for inflammatory arthritis. However inadequate response occurs in approximately 30% of patients treated. The main …
22
The era of genome‐wide association studies has revolutionized the search for genetic susceptibility loci in complex genetic conditions such as psoriasis. There are currently 16 loci with …
23
银屑病是一种炎症过度增生性皮肤病, 有强烈的遗传易感性. 主要受到遗传, 免疫和环境的影响. 由于部分患者病情处于中重度, 局部治疗效果不佳, 所以必须施以全身治疗. 但全身治疗费用高且…
24
… In the case of rs246240, the risk inferred by the presence of two copies of a major allele was increased (A allele: OR: 2.2; 95% CI: 1.3–3.6; p = 0.001), and for rs3784862, the risk …
25
Multidrug ABC transporters such as P-glycoprotein (P-gp/MDR1/ABCB1) and multidrug resistance protein 1 (MRP1/ABCC1) play an important role in the extrusion of drugs from the cell …
26
Methotrexate (MTX) is a folate inhibitor that is used successfully in treating a great variety of malignancies and autoimmune diseases. However, there are certain drawbacks to its use, …
27
Methotrexate, an inexpensive first-line systemic therapy for moderate-to-severe psoriasis, is limited in its use by unpredictable efficacy and toxicity. This study was designed to test the …
28
Psoriasis is an inflammatory hyperproliferative skin disease with a strong genetic susceptibility and influenced by genetic, immunological and environmental factors. Because …
29
… ABCC1 rs3784862 16 16110891 G/A 0.72 …
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.