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Genoset

From SNPedia

A genoset refers to a defined set of genotypes; we have coined the term to represent the combination of alleles at 2 or more loci, especially when they are not contiguous along a chromosome. Typically, these are then related to a medical (or ancestral) consequence that arises only when a particular combination of SNPs is inherited.

Promethease understands this criteria syntax.

More information about genosets can be found in the related SNPedia blog post. Note that genosets themselves are boolean, not quantitative; each genoset is either true (present) or false (absent) in an individual, based on the genoset's criteria, in the same way that a genotype (or allele) is either present or absent. Note that if a DNA microarray platform lacks a given SNP, genosets that require it (that SNP) will not return a result during a Promethease evaluation.

Most Significant

 ReputeMagnitudeSummaryModification date"Modification date" is a predefined property that corresponds to the date of the last modification of a subject and is provided by Semantic MediaWiki.
Gs318Bad10Unsupported platform9 April 2018 06:33:46
Gs14910Testing for orientation issues21 January 2020 04:23:01
Gs3037WeGene quality control issues.8 June 2016 05:40:37
Gs3007Data Quality issue. Your data provider is reporting heterozygosity on the Y chromosome.23 October 2016 09:50:25
Gs306Bad6.5Poor metabolizer of fluoropyrimidines (e.g. 5-fluorouracil, capecitabine or tegafur).25 May 2017 00:56:35
Gs2676APOE1/APOE15 November 2016 18:42:06
Gs314Bad6MUTYH-associated polyposis (and colon cancer risk)24 December 2017 19:56:29
Gs216Bad62 copies of the APOE-ε4 allele5 December 2017 19:38:24
Gs228Bad6Sickle cell affected3 June 2017 01:37:39
Gs329Bad5.5~6x higher risk for end-stage renal disease8 June 2019 18:27:45
... further results


Most Recently Active

 ReputeMagnitudeSummaryModification date"Modification date" is a predefined property that corresponds to the date of the last modification of a subject and is provided by Semantic MediaWiki.
Gs14910Testing for orientation issues21 January 2020 04:23:01
Gs224Bad3Two copies of GCH1 variant associated with lower levels of tetrahydrobiopterin9 January 2020 19:26:09
Gs310Good2.7Change in metabolism of certain substances7 January 2020 10:56:18
Gs268Good4APOE E2/E25 November 2019 16:26:42
Gs1821CYP2D6*39 normal metabolism9 June 2019 03:26:29
Gs329Bad5.5~6x higher risk for end-stage renal disease8 June 2019 18:27:45
Gs311Bad2.7Slow metabolizer of Dichloroacetate (DCA)7 May 2019 01:26:25
Gs2373.1Blue eyes are more likely30 April 2019 16:20:26
Gs1000Bad3.5causes gout28 March 2019 17:33:38
Gs186Bad1.5HLA-B*5801 heterozygosity is possible, unfortunately this is just too common to be useful24 March 2019 03:00:11
... further results


You can create a new genoset by clicking that link and filling in the form. But you'll still need to populate the criteria syntax.