geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

ClinVar: public archive of relationships among sequence variation and human phenotype


, : ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Research 42(Database Issue): D980-D985

ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically important variants and phenotypes. ClinVar accessions submissions reporting human variation, interpretations of the relationship of that variation to human health and the evidence supporting each interpretation. The database is tightly coupled with dbSNP and dbVar, which maintain information about the location of variation on human assemblies. ClinVar is also based on the phenotypic descriptions maintained in MedGen (http://www.ncbi.nlm.nih.gov/medgen). Each ClinVar record represents the submitter, the variation and the phenotype, i.e. the unit that is assigned an accession of the format SCV000000000.0. The submitter can update the submission at any time, in which case a new version is assigned. To facilitate evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, assigns a distinct accession of the format RCV000000000.0 and reports if there are conflicting clinical interpretations. Data in ClinVar are available in multiple formats, including html, download as XML, VCF or tab-delimited subsets. Data from ClinVar are provided as annotation tracks on genomic RefSeqs and are used in tools such as Variation Reporter (http://www.ncbi.nlm.nih.gov/variation/tools/reporter), which reports what is known about variation based on user-supplied locations.

US$19.90

PMID: 24234437

DOI: 10.1093/nar/gkt1113


Other references

Hofmann, A.F.; Borgstroem, B., 1964: The Intraluminal Phase Of Fat Digestion In Man: The Lipid Content Of The Micellar And Oil Phases Of Intestinal Content Obtained During Fat Digestion And Absorption. Intestinal contents were obtained by tube from a number of healthy subjects after a test meal containing maize oil. The intestinal contents were heated for 10min at 70oC to inactivate pancreatic lipase and then centrifuged at 37o to 40 degrees for...

Fun, H-Kun.; Chantrapromma, S.; Abdel-Aziz, H.A., 2012: (Z)-2-(4-Chloro-benzyl-idene)benzo[d]thia-zolo[3,2-a]imidazol-3(2H)-one. The mol-ecule of the title compound, C(16)H(9)ClN(2)OS, is approximately planar, the dihedral angle between the thia-zolo[3,2-a]benzimidazole ring system and the 4-chloro-phenyl ring being 2.10 (5)°. An intra-molecular C-H⋯S inter-action gene...

Ghulam Muhammad; Abdul Jabbar; Zafar Iqbal, 2005: Canine dirofilariasis. Heartworm disease is an obstructive pulmonary vascular disorder in dogs caused by the mosquito-borne filarial parasite Dirofilaria immitis. Different drugs are used as adulticide and microfilaricide for the treatment of this disease. This report d...

Kunze, M., 1980: World Health Day 1980. Smoking or health, it's your choice. Osterreichische Krankenpflegezeitschrift 33(3): 69-72

Blomquist, Harry E., 1956: Kann ein in der Magenwand appliziertes, sklerosierendes Agens eine Zunahme der Mastzellenzahl der Schilddruse verursachen?. A brief study of the influence of varietol on the number of mast cells in the lining of the stomachs of guinea pigs.

Tamate, R.O.taka, F., 1975: Sulfur content in pork and the. Ibaraki Daigaku Nogakubu gakujutsu hokoku: 23 29-34

Asrorov, Ka, 1971: On the coefficient of light utilization by cotton crops depending on fertile soil layer size. Fotosintez i Ispol'zovanie Solnechnoi Energii: 9-44

Schmidley, J.W.; Rudnicki, S.A.; Heard, J.K.; Allen, R.M., 2001: Impact of Neuroscience clerkship experience on performance on the final clerkship, and clinical practice, exams. Neurology 56(8 Supplement 3): A30-A31, April 24

Lubrano, E.; Parsons, W.Joanne.; Marchesoni, A.; Olivieri, I.; D'Angelo, S.; Cauli, A.; Caso, F.; Costa, L.; Scarpa, R.; Brunese, L., 2016: The Definition and Measurement of Axial Psoriatic Arthritis. This review seeks to update the state of the art of axial psoriatic arthritis (axPsA). The definition and assessment of axPsA can be problematic because no agreement and no definitive data on this topic have been published, resulting in uncertaint...

Kondo, A.; Tokuda, H.; Matsushima-Nishiwaki, R.; Kuroyanagi, G.; Yamamoto, N.; Mizutani, J.; Kozawa, O.; Otsuka, T., 2014: Rho-kinase limits BMP-4-stimulated osteocalcin synthesis in osteoblasts: regulation of the p38 MAP kinase pathway. We previously reported that bone morphogenetic protein-4 (BMP-4) stimulates the synthesis of osteocalcin via p38 mitogen-activated protein (MAP) kinase in osteoblast-like MC3T3-E1 cells, whereas p44/p42 MAP kinase plays as a negative regulator in...