CHROMOSOME 3 ADCY5 3q21.1 GENE VIEW ADCY5 · 3q21.1 3q20 3q22 rs9883204 — ~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 rs9883204 T / A · ADCY5 · 3q21.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs9883204

Gene: ADCY5 — Adenylate Cyclase 5 Chr 3:123377973 3q21.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.245551C 0.754449TT 0.063896TC/CT 0.363309CC 0.572794pop=464,376
African T 0.32276C 0.67724TT 0.102882TC/CT 0.439751CC 0.457368pop=43,934
African American T 0.3223C 0.6777TT 0.102592TC/CT 0.43941CC 0.457998pop=42,284
African Others T 0.3345C 0.6655TT 0.110303TC/CT 0.448485CC 0.441212pop=1,650
Asian T 0.0052C 0.9948TT 0.000311TC/CT 0.009781CC 0.989908pop=12,882
East Asian T 0.0011C 0.9989TT 0TC/CT 0.002269CC 0.997731pop=9,696
European T 0.244776C 0.755224TT 0.061043TC/CT 0.367466CC 0.571491pop=370,298
Latin American 1 T 0.2546C 0.7454TT 0.057636TC/CT 0.393906CC 0.548458pop=5,448
Latin American 2 T 0.3234C 0.6766TT 0.109739TC/CT 0.427414CC 0.462847pop=9,878
Other T 0.20245C 0.79755TT 0.050533TC/CT 0.30383CC 0.645638pop=18,958
Other Asian T 0.0176C 0.9824TT 0.001255TC/CT 0.032643CC 0.966102pop=3,186
South Asian T 0.2421C 0.7579TT 0.06313TC/CT 0.357958CC 0.578912pop=2,978

Studies44

Unread Studies44
1
Neonates at the highest and lowest percentiles of birth weight present an increased risk of developing metabolic diseases in adult life. While environmental …
2
… Previous genome-wide association studies of birth weight identified a variant in the ADCY5 (rs9883204) associated with birth weight and type 2 diabetes, and another variant, near …
3
… Rs11708067 allele of ADCY5, is in linkage disequilibrium with the C allele of rs9883204, leading to weight reduction and it is associated with a higher risk of type 2 diabetes, higher …
4
… They identified that rs900400, located near CCNL1, and rs9883204, located in ADCY5, were robustly associated with birth weight. The SNP rs9883204 showed a relatively strong …
5
Epidemiology studies suggested that low birthweight was associated with a higher risk of hypertension in later life. However, little is known about the causality of such associations. In …
6
Genetics have been an important risk factor for cancer. The information we learned from genome-wide association studies (GWAS) provide researchers with tools and new approach to …
7
We reviewed epidemiological studies of gene–environment interactions to detect adverse health effects of environmental chemicals on the next generation in 2008, more than 10 years …
8
… with fetal genotypes in the leucine, glutamate, and lysine rich 1 (LEKR1)/cyclin L1 (CCNL1) gene region (rs900400), as well as in the adenylate cyclase 5 (ADCY5) gene (rs9883204). …
9
… nucleotide polymorphism (SNP), rs9883204, located at 3q21 within … sequencing, the association of rs9883204 in ADCY5 with birth … The polymorphism at rs9883204 (ADCY5) showed …
10
Selective Serotonin Reuptake Inhibitors (SSRIs) act as the first-line antidepressants prescribed for the treatment of prenatal depression. Evidence from previous studies has …
11
… Consortium conducted a GWAS of the 10,623 participants of European descent from 13 birth cohorts and found that two genetic loci, rs900400 near the CCNL1 gene and rs9883204 in …
12
Observationally, lower birth weight is usually associated with poorer academic performance; whether this association is causal or the result of confounding is unknown. To investigate …
13
We examined whether offspring sex-specific associations of maternal LTPA with offspring birthweight (BW) differ by placental fetal growth-related common genetic variations…
14
Low birth weight is a risk factor for cardiovascular disease. However, the association could be confounded by many factors. We used Mendelian randomization to clarify the role of birth …
15
Mendelian randomization (MR) is a technique that seeks to establish causation between an exposure and an outcome using observational data. It is an instrumental variable analysis in …
16
Fetal insulin hypothesis was proposed that the association between low birth weight and type 2 diabetes is principally genetically mediated. The aim of this study was to …
17
… The Forest plot in Figure 4 shows the strong effect of two genetic variants: rs9883204 in the ADCY5 gene and rs6931514 in the CDKAL1 gene, which are already known as type 2 …
18
… των μονονουκλεοτιδικών πολυμορφισμών rs9883204 T>C … C του γονιδίου MC4R και rs9883204 C του γονιδίου ADCY5 σε … Αντιθέτως το αλλήλιο C του πολυμορφισμού rs9883204 του …
19
Fetal growth is influenced by the in utero environment and genetic factors inherited from both parents. Poor fetal growth leading to low birth weight is associated with insulin resistance …
20
David Barker らは, 英国の記述疫学研究により, 循環器疾患死亡率の高い地域は, 同世代が幼 小児期当時の幼児死亡率が高いことを発見し, 次いで 1911 年から約 30 年間の記録の残っている …
21
Newborns characterized as large and small for gestational age are at risk for increased mortality and morbidity during the first year of life as well as for obesity and dysglycemia as …
22
Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood 1 . Previous genome-…
23
Preterm birth (PTB) is defined as live birth before 37 complete weeks gestation. Parturition in humans, typically occurs between 37–42 weeks gestation, with 40 weeks gestation being …
24
Type 2 diabetes is one of the most common complex diseases, of which considerable efforts have been made to unravel the pathophysiological mechanisms. Recently, large‐scale …
25
The E23K variant of the KCNJ11 gene is possibly responsible for changes in insulin secretion during the fetal life. We tried to assess the influence of the E23K variant on …
26
Intrauterine and postnatal growth influences future risks for metabolic syndrome. Body size and blood pressure (BP) are polygenic traits. The role for genetic variations in …
27
We previously identified via a genome wide association study variants near LEKR and CCNL1 and in the ADCY5 genes lead to lower birthweight. Here, we study the …
28
To examine associations between rs9883204 … associations of rs900400 and rs9883204 with birth weight in … No significant associations were identified with rs9883204 or …
29
… Als Ursache für die ausgebliebene Verbindung von rs9883204 und Geburtsgewicht nehmen die Autoren die geringere Power an, um die kleine Effektgröße für diesen SNP ermitteln zu …
30
… Für das C-Allel des SNP rs9883204 konnten anhand der Daten der Mütter und Kinder keine … Als Ursache für die ausgebliebene Verbindung von rs9883204 und Geburtsgewicht …
31
… Notably, LEKR1/CCNL1 (rs900400) was associated with fetal head circumference, whereas ADCY5 (rs9883204) was not. However, the mechanisms by which these variants in the …
32
… birth cohorts (n = 3,090) suggested that the genetic variant rs900400 is associated with symmetric growth restriction (early pregnancy influence), whereas the genetic variant rs9883204 …
33
… Each additional foetal C-allele at SNP rs9883204 is associated with a lower birth weight by … The C-allele of rs9883204 is associated both with lower birth weight and an increased risk …
34
One could argue that since it was the first survey of its sort in that part of the country, there may be an element of length time bias: Wherein there could be an accumulation of cases over …
35
Given the unique role of the corticotrophin-releasing hormone (CRH) system in human fetal development, the aim of our study was to estimate the association of birth …
36
Given the unique role of the corticotrophin-releasing hormone (CRH) system in human fetal development, the aim of our study was to estimate the association of birth …
37
Given the unique role of the corticotrophin-releasing hormone (CRH) system in human fetal development, the aim of our study was to estimate the association of birth …
38
… In the current study, rs9883204 variant of ADCY5 was associated with raised fasting and 2-hour glucose concentrations following an oral glucose tolerance test performed in early …
39
Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for …
40
… Единичный нуклеотидный полиморфизм (SNP) rs900400, расположенный около генов LEKR1 и CCNL1, и rs9883204, расположенный в ADCY5, ассоциировались с массой …
41
The study investigates the relationship between early life factors and blood pressure at age 31 in individuals from the 1966 Northern Finland Birth Cohort. Findings indicate a negative …
42
In a genome-wide association study of birth weight (up to 69,308 individuals of European descent from 43 studies), we have extended the number of genome-wide …
43
The decline of physical activity in children is considered an important determinant to explain the rising rates of obesity. However, this risk may be augmented in children who …
44
El bajo peso al nacer (BPN: nacidos con menos de 2.500 gramos independientemente de cuál sea su sexo), acompañado o no de la prematuridad (nacidos antes de la semana de …
Curated Studies0

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Unused Studies0

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