CHROMOSOME 21 SLC19A1 21q22.3 GENE VIEW SLC19A1 · 21q22.3 21q21 21q23 rs2838956 — ~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 rs2838956 A / C · SLC19A1 · 21q22.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs2838956

Gene: SLC19A1 — Solute Carrier Family 19 Member 1 Chr 21:45525110 21q22.3 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.562458G 0.437542AA 0.320509AG/GA 0.483897GG 0.195593pop=520,540
African A 0.339G 0.661AA 0.116838AG/GA 0.44433GG 0.438832pop=34,920
African American A 0.34087G 0.65913AA 0.117988AG/GA 0.445765GG 0.436248pop=33,834
African Others A 0.2808G 0.7192AA 0.081031AG/GA 0.399632GG 0.519337pop=1,086
Asian A 0.442G 0.558AA 0.193548AG/GA 0.496815GG 0.309636pop=9,734
East Asian A 0.4403G 0.5597AA 0.192068AG/GA 0.496371GG 0.31156pop=7,716
European A 0.585035G 0.414965AA 0.341922AG/GA 0.486226GG 0.171852pop=432,338
Latin American 1 A 0.5008G 0.4992AA 0.257055AG/GA 0.487566GG 0.255379pop=7,158
Latin American 2 A 0.57192G 0.42808AA 0.323634AG/GA 0.49657GG 0.179796pop=18,076
Other A 0.5387G 0.4613AA 0.297079AG/GA 0.483248GG 0.219673pop=12,118
Other Asian A 0.4485G 0.5515AA 0.199207AG/GA 0.498513GG 0.302279pop=2,018
South Asian A 0.5258G 0.4742AA 0.283731AG/GA 0.484183GG 0.232085pop=6,196

Studies25

Unread Studies25
1
… [60] further discovered that SNPs (rs7499, rs1051266, rs2838956) in the gene SLC19A1 were associated with gastrointestinal toxicity in patients with rheumatoid arthritis. Similarly, …
2
Methotrexate (MTX) is the most widely used disease-modifying anti-rheumatic drug (DMARD) for rheumatoid arthritis (RA). Many studies have attempted to understand the genetic risk …
3
There is an evident impact of the NCF4 rs1883112 and CBR3 rs1056892 polymorphisms with an increased risk of susceptibility to ALL; Likewise, through the codominant …
4
Methotrexate (MTX) is the first-line therapy for rheumatoid arthritis (RA), but nearly 30% of RA patients do not respond to it. Methotrexate acts by enhancing the level of …
5
… Также получены данные о высокой эффективности применения метотрексата у пациентов с полиморфизмом rs2838956 [10]. Результаты исследований корреляции …
6
… Также получены данные о высокой эффективности применения метотрексата у пациентов с полиморфизмом rs2838956 [10]. Результаты исследований корреляции …
7
Метотрексат является высокоэффективным препаратом для системного лечения среднетяжелых и тяжелых форм псориаза, однако токсичность препарата может …
8
В статье проводится анализ литературных данных об ассоциации аллельных вариантов генов, участвующих в метаболизме метотрексата с эффективностью терапии. …
9
Methotrexate is a highly efficacious treatment for psoriasis, but the use of methotrexate may be limited by concerns regarding its adverse reactions. On average, 28.3 % of patients with …
10
… The SNP rs1051266 along with SNP rs1131956 had a protective role, and rs2838956 had a role in the protection of adverse drug reactions to the skin. The SNPs rs7499, rs2838956, …
11
Acute lymphoblastic leukemia (ALL) is considered the most frequent cancer in pediatric age; it affects more children between 2 to 8 years old and adolescents, being more common in …
12
… SLC19A1 A>G rs2838956 showed a trend toward a significant association (odds ratio, 0.377; 95% confidence interval, 0.124–1.143; P = .085) with toxicity. Our results suggest that the …
13
Methotrexate is the first systemic therapeutics of psoriasis. It is reported that 40% of the patients achieved a PASI75 after 12 weeks with a small dose of methotrexate (15 mg …
14
治疗类风湿关节炎(rheumatoid arthritis, RA) 的药物主要包括疾病调修抗风湿药物(disease-modifying antirheumatic drugs, DMARDs), 非甾体抗炎药物(nonsteroidal anti-inflammatory …
15
… > G (rs2838956) found significant associations between the SLC19A1 A > G (rs2838956) 3 … However, because of the small sample size, the association between SLC19A1 (rs2838956 …
16
Identifying the predictors of responsiveness and adverse events in methotrexate (MTX) treated patients with rheumatoid arthritis (RA) has been the focus of most concern, but still …
17
长期以来, 抗肿瘤药物在个体间的毒性差异受到临床医生的高度关注, 其临床毒性的发生不仅与 患者的年龄, 性别以及药物间相互作用等因素有关, 而且和参与药物代谢的蛋白, 药物作用靶标及…
18
… The results indicated that the COL18A1 (rs2274808)+SLC19A1 (rs2838956) combination, in relation to the wild type genotype (CC+AA), had a significant association to ALL among the …
19
… Furthermore, SLC19A1 haplotypes rs7499, rs1051266 and rs2838956 may help to identify patients with increased risk of developing MTX toxicity.[Citation26] …
20
Methotrexate (MTX), the most commonly used anti-rheumatic drug against RA, enters the cell via the action of the reduced folate carrier 1(RFC1). A major polymorphism of the RFC1 …
21
Acute lymphoblastic leukemia (ALL) is one of the most common diseases in pediatric oncology. Antimetabolite Methotrexate (MTX) are used for its treatment. …
22
… COL18A1(rs2274808) y SLC19A11(rs2838956) estudiados y que expresan para proteínas … El polimorfismo SLC19A1 (rs2838956) se encontró en un importante número de pacientes …
23
Rheumatoid arthritis is a disease showing considerable heterogeneity in all its aspects, including response to therapy. The efficacy of disease-modifying antirheumatic drugs (DMARDs)…
24
Метотрексат (4-дезокси-4-амино-10-метилфолиевая кислота) зарекомендовал себя как высокоэффективное лекарственное средство, однако, у многих пациентов на фоне …
25
La citogenética de insectos ha experimentado en los últimos cinco años un notable desarrollo gracias a la aplicación de diversas técnicas de hibridación in situ (FISH, GISH, CGH, Zoo-…
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.