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A SNP in the F5 gene causes Factor V Leiden thrombophilia. [50] rs3091244 is an example of a triallelic SNP in the CRP gene on human chromosome 1. [51] TAS2R38 codes for PTC tasting ability, and contains 6 annotated SNPs. [52] rs148649884 and rs138055828 in the FCN1 gene encoding M-ficolin crippled the ligand-binding capability of the ...
SNP variants tend to be common in different human populations. These polymorphisms have been valuable as genomic signposts, or "markers", in the search for common variants that influence susceptibility to common diseases. Research has linked common SNPs to diseases such as type 2 diabetes, Alzheimer's, schizophrenia and hypertension. [2] [3] [4 ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Pages in category "Single-nucleotide polymorphism associated disease" The following 4 pages are in this category, out of 4 total. This list may not reflect recent changes .
As of 27 June 2019, the website has 537 medical conditions [5] and 109,729 SNPs in its database. [6] The number of SNPs in SNPedia has doubled roughly once every 14 months since August 2007. [7] On 7 September 2019, MyHeritage announced that they acquired both SNPedia and Promethease. All non-European raw genetic data files previously uploaded ...
As of 2009, SNPs associated with diseases are numbered in the thousands. [34] The first GWA study, conducted in 2005, compared 96 patients with age-related macular degeneration (ARMD) with 50 healthy controls. [35] It identified two SNPs with significantly altered allele frequency between the two groups.
Autosomal dominant conditions sometimes have reduced penetrance, which means although only one mutated copy is needed, not all individuals who inherit that mutation go on to develop the disease. Examples of this type of disorder are Huntington's disease, [21]: 58 neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary ...
dbSNP is an online resource implemented to aid biology researchers. Its goal is to act as a single database that contains all identified genetic variation, which can be used to investigate a wide variety of genetically based natural phenomena.