CHROMOSOME 2 ATIC 2q35 GENE VIEW ATIC · 2q35 2q34 2q36 rs16853834 — ~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 rs16853834 C / T · ATIC · 2q35 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs16853834

Gene: ATIC — 5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase Chr 2:215345513 2q35 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.846062T 0.153938CC 0.717539CT/TC 0.257045TT 0.025416pop=712,318
African C 0.96416T 0.03584CC 0.929993CT/TC 0.06834TT 0.001667pop=57,594
African American C 0.96305T 0.03695CC 0.927796CT/TC 0.070514TT 0.00169pop=55,620
African Others C 0.9954T 0.0046CC 0.991895CT/TC 0.007092TT 0.001013pop=1,974
Asian C 0.74996T 0.25004CC 0.570833CT/TC 0.358263TT 0.070905pop=13,906
East Asian C 0.72868T 0.27132CC 0.536621CT/TC 0.38411TT 0.079269pop=10,950
European C 0.838646T 0.161354CC 0.703161CT/TC 0.27097TT 0.025869pop=586,028
Latin American 1 C 0.84172T 0.15828CC 0.709255CT/TC 0.264934TT 0.025811pop=10,848
Latin American 2 C 0.8088T 0.1912CC 0.654338CT/TC 0.308924TT 0.036738pop=16,114
Other C 0.83991T 0.16009CC 0.710499CT/TC 0.258819TT 0.030683pop=19,164
Other Asian C 0.8288T 0.1712CC 0.697564CT/TC 0.262517TT 0.039919pop=2,956
South Asian C 0.8052T 0.1948CC 0.656741CT/TC 0.296861TT 0.046399pop=8,664

Studies29

Unread Studies29
1
… several other SNPs, including rs4673993, rs16853834, and rs3821353, within ATIC and … With regard to rs16853834 and rs3821353, although significant evidence was detected for …
2
Актуальность. Метотрексат (МТ) является самым назначаемым базисным противовоспалительным препаратом (БПВП) для лечения ревматоидного артрита (РА). …
3
High-dose methotrexate (HD-MTX) is a widely used chemotherapy regimen for hematologic malignancies such as lymphomas and acute lymphoblastic leukemia, but its use can lead to …
4
… Polymorphism rs3821353 accounted for the intracellular concentration of 6TGN, whereas polymorphism rs16853834 and rs11706052 IMPDH2 gene were associated with the ratio of …
5
Reumatoidni artritis (RA) je hronično, inflamatorno, autoimunsko oboljenje koje se karakteriše bolom, otokom i destrukcijom sinovijalnih zglobova, što može da dovede do invaliditeta i …
6
Inflammatory bowel disease (IBD) involves a variety of conditions, particularly Crohn’s disease (CD) and ulcerative colitis (UC). IBD is characterized by chronic inflammatory process of …
7
Methotrexate (MTX) is one of the most common medications used for rheumatoid arthritis (RA) treatment. Single-nucleotide polymorphisms (SNPs) could potentially predict …
8
… The genotype distribution or allele frequency of rs3772078 and rs16853834 was significantly … We determined that the rs3772078 and rs16853834 polymorphisms are associated with a …
9
… Polymorphism rs3821353 was responsible for the level of 6TGN in cells, while variant rs16853834 and the rs11706052 IMPDH2 gene were related to the ratio of the metabolite 6TGN …
10
… In this study, 2 polymorphisms (rs3821353 and rs16853834 in the ATIC gene) previously shown to be involved in folate-methotrexate pathways were associated with either the …
11
We aimed to investigate the impact of various genetic polymorphisms affecting thiopurine metabolism pathways and toxicity in paediatric acute lymphoblastic leukaemia patients …
12
Methotrexate (MTX) is the first line drug for the treatment of a number of rheumatic and non-rheumatic disorders. It is currently used as an anchor disease, modifying anti-rheumatic drug …
13
A artrite reumatoide é uma doença músculo-esquelética autoimune, crónica e de caráter inflamatório que irrompe nas articulações, mas que pode culminar no envolvimento sistémico, …
14
… For ATIC, SNPs were in LD except for rs3821353 and rs16853834. Hence analyses regarding ATIC were performed considering the following combinations: 1) ATIC combination 1: …
15
Rheumatoid arthritis (RA) is an inflammatory autoimmune disease characterized by inflammation of multiple joints, leading to destruction of cartilage and juxta articular bone. It …
16
Antecedentes La artritis reumatoide (AR) es una enfermedad inflamatoria de origen autoinmune, caracterizada por inflamación de múltiples articulaciones que lleva a destrucción del …
17
… All SNPs in ATIC were in linkage disequilibrium except for rs3821353 and rs16853834 and analyses were performed considering the following combinations: 1. rs2372536, rs3821353, …
18
The aim of this analysis was to evaluate the prevalence of unemployment due to work disability in RA patients initiating treatment with infliximab (IFX) or golimumab (GLM) …
19
… All SNPs in ATIC were in linkage disequilibrium except for rs3821353 and rs16853834 and analyses were performed considering the following combinations: 1. rs2372536, rs3821353, …
20
… All SNPs in ATIC were in linkage disequilibrium except for rs3821353 and rs16853834 and analyses were performed considering the following combinations: 1. rs2372536, rs3821353, …
21
Rheumatoid arthritis (RA) is a complex, systemic autoimmune disease characterized by chronic inflammation of multiple peripheral joints, which leads to serious destruction of cartilage …
22
… 0.05) lie within the ATIC gene: two SNPs in high linkage disequilibrium (LD) using genotype data from our cohort (rs12995526 and rs7563206, r 2 =0.98) and a single SNP (rs16853834…
23
… (actual: 968 cases and 1,265 controls) to detect an OR of 0.7 (ATIC rs7586969) at alpha = 0.05, and we would require 1,161 case–control pairs to detect an OR of 1.5 (ATIC rs16853834…
24
The incidence of cleft lip and (or) palate (CL/P) varies from 0.4 to 2.0 in 1000 live births across populations. More and more CL/P candidate loci are being confirmed using novel …
25
Patients with moderate to severe RA who remained on methotrexate (MTX) despite inadequate response were treated with TCZ in a double-blind, randomized, controlled …
26
… Using a homozygosity-mapping strategy, we assigned the disease locus to an ∼9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a …
27
Incomplete retinal vascularization occurs in both Norrie disease and familial exudative vitreoretinopathy (FEVR). Norrin, the protein product of the Norrie disease gene, is a secreted …
28
Methotrexate (MTX) is the cornerstone of treatment for rheumatoid arthritis (RA). However, up to a third of individuals will fail to respond to MTX treatment or suffer adverse …
29
… All SNPs in ATIC were in linkage disequilibrium except for rs3821353 and rs16853834 and analyses were performed considering the following combinations: 1. rs2372536, rs3821353, …
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.