CHROMOSOME 11 BDNF 11p14.1 GENE VIEW BDNF · 11p14.1 11p15 11p13 rs8192466 — ~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 rs8192466 Threonine 2 → Isoleucine G / A · BDNF · 11p14.1 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

rs8192466

Threonine 2 → Isoleucine Gene: BDNF — Brain Derived Neurotrophic Factor Chr 11:27658560 11p14.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies10

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Total G 0.998023A 0.001977GG 0.996055GA/AG 0.003935AA 0.000009pop=652,014
African G 0.99957A 0.00043GG 0.999182GA/AG 0.000785AA 0.000033pop=61,152
African American G 0.99956A 0.00044GG 0.999153GA/AG 0.000813AA 0.000034pop=59,034
Asian G 0.99988A 0.00012GG 0.999757GA/AG 0.000243AA 0pop=16,464
European G 0.997759A 0.002241GG 0.995525GA/AG 0.004467AA 0.000008pop=510,884
Latin American 1 G 0.99732A 0.00268GG 0.994637GA/AG 0.005363AA 0pop=10,442
Latin American 2 G 0.99916A 0.00084GG 0.998327GA/AG 0.001673AA 0pop=15,538
Other G 0.99798A 0.00202GG 0.995962GA/AG 0.004038AA 0pop=33,678
Other Asian G 0.9995A 0.0005GG 0.999033GA/AG 0.000967AA 0pop=4,136
South Asian G 0.9982A 0.0018GG 0.996369GA/AG 0.003631AA 0pop=3,856

Studies48

Unread Studies48
1
The Necessity of POMC and MC3R Analysis in the First-Level Diagnosis of Monogenic Obesity: The Experience of Two Italian Centers
2
Brain‐derived neurotrophic factor (BDNF) and apolipoprotein E (APOE) are key regulators of neuronal function and cognitive health. Genetic variations in these genes, …
3
Glaukom obuhvaća heterogenu skupinu bolesti koje se definiraju kao kronične, progresivne optičke neuropatije obilježene karakterističnim strukturnim oštećenjima glave vidnog živca (…
4
Brain-derived neurotrophic factor (BDNF) is essential for neuronal survival and plasticity. An in silico analysis was performed on missense variants of BDNF retrieved from dbSNP and …
5
… aminoácidos R209L ‒ rs1048221, R135L ‒ rs1048221, V148M ‒ rs6265, R93Q ‒ rs199638553, R125M ‒ rs1048220, R127L ‒ rs1048221, T163S ‒ rs201468555 e T2I ‒ rs8192466 …
6
Brain-derived neurotrophic factor (BDNF) is a predominant neurotrophic factor in the brain, indispensable for neuronal growth, synaptic development, neuronal repair, and hippocampal …
7
… R209L ‒ rs1048221, R135L ‒ rs1048221, V148M ‒ rs6265, R93Q ‒ rs199638553, R125M ‒ rs1048220, R127L ‒ rs1048221, T163S ‒ rs201468555 e T2I ‒ rs8192466 …
8
… R209L ‒ rs1048221, R135L ‒ rs1048221, V148M ‒ rs6265, R93Q ‒ rs199638553, R125M ‒ rs1048220, R127L ‒ rs1048221, T163S ‒ rs201468555 e T2I ‒ rs8192466 …
9
The genetic causes underlying incontinence in both children and adults have begun to be unravelled during the last decades. The aim of this scoping review is to synthesize current …
10
Alzheimer's Disease (AD) and other forms of Mild Cognitive Impairment (MCI) affect millions of people around the world. The buildup of Amyloid-Beta (Aβ) and Tau proteins in the brain …
11
Brain-derived neurotrophic factor is an extensively studied neurotrophin implicated in the pathology of multiple neurodegenerative and psychiatric disorders including, but not limited to, …
12
SNPs in SIDS is a research project into the histologic, environmental and genetic risk factors of sudden infant death syndrome in the Netherlands. By identifying risk factors for SIDS …
13
Migraine is regarded as the most common disease affecting human functioning. Migraine is classified as the common type of primary headache disorder characterized by the “episodic …
14
Dubravka Švob Štrac, for their professional guidance, constructive feedback and continued support during my doctoral journey and the preparation of this dissertation. I am sincerely …
15
… rs1048220, rs1048221, rs8192466, rs56164415 and rs139352447 that are associated with certain psychiatric disorders in different populations (Gunstad et al., 2006: Narayanan et al., …
16
Traumatic brain injury is one of the leading causes of mortality and morbidity in the world with no current pharmacological treatment. The role of BDNF in neural repair and regeneration …
17
The aim of the study is to look for single nucleotide polymorphism in genes FTO, MC4R and BDNF in obese people. A large number of evidence suggests a relationship between a wide …
18
For the first time in history, most of the population has a life expectancy equal or greater than 60 years. By the year 2050, it is expected that the world population in that age range will …
19
… do gene BDNF rs6265 (196G/A) e rs8192466 com a obesidade e a SAOS. Foi encontrado que … O polimorfismo rs8192466 do BDNF não foi detectado em nenhum sujeito incluído neste …
20
… No mutant alleles were found in BDNF rs8192466 and NGF rs11466112 polymorphisms in either group. Children with PMNE had higher urine BDNF/Cr (0.020 ± 0.010 vs 0.010 ± 0.002…
21
Schizophrenia (SZ) is a debilitating mental illness with a multigenic aetiology and significant heritability. Despite extensive genetic studies, the molecular aetiology has remained …
22
Since its discovery, brain-derived neurotrophic factor (BDNF) has spawned a literature that now spans 35 years of research. While all neurotrophins share considerable overlap in …
23
Variation in genes of the leptinergic-melanocortinergic system influence both body weight and height. Because short normal stature (SNS) is characterized by reduced …
24
Genome-wide association studies are widely used to map genomic regions contributing to lung cancer (LC) susceptibility, but they typically do not identify the precise …
25
Schizophrenia (SZ) is a debilitating mental illness with multigenic etiology and high heritability. Despite extensive genetic studies the molecular etiology stays enigmatic. A systems …
26
Le facteur neurotrophique dérivé du cerveau (BDNF, Brain-Derived Neurotrophic Factor) est une protéine qui joue un rôle essentiel dans la survie et la différenciation des neurones, …
27
… (196G>A) and rs8192466 polymorphisms with the presence … In the present study, BDNF rs6265(196G>A) and rs8192466 … Met), rs925946, and rs8192466 SNPs can particularly result in …
28
The predictability of neurocognitive outcomes in patients with traumatic brain injury is not straightforward. The extent and nature of recovery in patients with mild traumatic brain injury (…
29
… On the other hand, only the CC genotype was observed in all patients and controls for the BDNF rs8192466(C/T) and NGF rs11466112(C/T) polymorphisms, while the CT and TT …
30
Obesity continues to be a major global problem. Various cancers are related to obesity and proper understanding of their aetiology, especially their molecular tumour biology is …
31
The Long Life Family Study (LLFS) is an international study to identify the genetic components of various healthy aging phenotypes. We hypothesized that pedigree-…
32
Chronic postsurgical pain (CPSP) has been linked to many surgical settings. The authors aimed to analyze functional genetic polymorphisms and clinical factors that might …
33
… Drugi polimorfizmi gena BDNF (rs1048220, rs1048221, rs8192466) nisu bili značajno povezani s pojavom AB-a, dok je za samo jedan SNP (rs1048218) pronađen trend prema …
34
It has been well known for years that there is considerable interindividual variability in the sensitivity to and tolerance of experimental pain stimuli, in the propensity to develop painful …
35
Unclassified sudden infant death (USID) is the sudden and unexpected death of an infant that remains unexplained after thorough case investigation including performance of a …
36
… In this study, we found the polymorphism T2I (rs8192466) in three unrelated obese individuals (frequency 0.54%). The polymorphism had previously been described in a single …
37
Obesity is a chronic condition which is hallmarked by an abnormal accumulation of body fat in proportion to total body composition. World-wide, the disease has grown to an alarming …
38
Brain-derived neurotrophic factor (BDNF) is a neurotrophin that plays a fundamental role in development and plasticity of the central nervous system (CNS). It is currently recognized as …
39
A doença de Alzheimer (DA) e o transtorno depressivo maior são doenças altamente prevalentes na população idosa e que determinam elevadas taxas de incapacidades. As duas …
40
2.1 Formal genetic findings 6 2.2 Candidate gene studies 8 2.2. 1 Dominant forms of monogenic obesity 9 2.2. 2 Recessive forms of monogenic obesity 11 2.2. 3 Polygenic obesity 13 …
41
Brain‐derived neurotrophic factor (BDNF) has been advanced as a candidate gene for schizophrenia by virtue of its effects on neurotransmitter systems that are dysregulated in …
42
Increasing evidence suggests a role for nerve growth factor (NGFB), brain-derived neurotrophic factor (BDNF), and their receptors, nerve growth factor receptor (NGFR), and …
43
Alzheimer’s disease is complex, with variants in multiple genes contributing to interactions increasing risk for the disease. Brain-derived neurotrophic factor (BDNF) …
44
Potential roles for variants in the human BDNF gene in human brain disorders are supported by findings that include: (a) influences that this trophic factor can exert on important neurons…
45
Several lines of evidence indicate an involvement of brain derived neurotrophic factor (BDNF) in body weight regulation and activity: heterozygous Bdnf knockout mice (Bdnf +/− ) are …
46
… This study suggested that three nsSNPs, rs8192466, rs1048218, and rs77787410 were identified as deleterious, thus destabilizing the protein stability, amino acid interactions, and …
47
Schizophrenia (SZ) is a debilitating mental illness with multigenic etiology and significant heritability. Despite extensive genetic studies the molecular etiology has remained enigmatic. …
48
Chronic postsurgical pain (CPSP) has been linked to many surgical settings. We aimed to analyze functional genetic polymorphisms and clinical factors that might identify …
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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