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  2. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    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 ...

  3. Common disease-common variant - Wikipedia

    en.wikipedia.org/wiki/Common_disease-common_variant

    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 ...

  4. SNP array - Wikipedia

    en.wikipedia.org/wiki/SNP_array

    A SNP array can also be used to generate a virtual karyotype using software to determine the copy number of each SNP on the array and then align the SNPs in chromosomal order. [10] SNPs can also be used to study genetic abnormalities in cancer. For example, SNP arrays can be used to study loss of heterozygosity (LOH). LOH occurs when one allele ...

  5. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    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.

  6. Gene desert - Wikipedia

    en.wikipedia.org/wiki/Gene_desert

    Another affected region in the 9p21 gene desert causes several coronary artery diseases. [16] However, none of these risk-conferring gene deserts seem to be affected as much as the 8q24 regions. Current studies are still unsure about the SNP-affected processes in the 8q24 region that result in particularly amplified responses to the MYC promoter.

  7. Genetic causes of type 2 diabetes - Wikipedia

    en.wikipedia.org/wiki/Genetic_causes_of_type_2...

    However, single nucleotide polymorphism (SNP) is one of many mechanisms that leads to increased risk for type 2 diabetes. To locate genes and loci that are responsible for the risk of type 2 diabetes, genome wide association studies (GWAS) was utilized to compare the genomes of diabetic patient group and the non-diabetic control group. [4]

  8. SNP genotyping - Wikipedia

    en.wikipedia.org/wiki/SNP_genotyping

    SNPs are one of the most common types of genetic variation. An SNP is a single base pair mutation at a specific locus, usually consisting of two alleles (where the rare allele frequency is > 1%). SNPs are found to be involved in the etiology of many human diseases and are becoming of particular interest in pharmacogenetics.

  9. Polygenic score - Wikipedia

    en.wikipedia.org/wiki/Polygenic_score

    An early (2006) example of a genetic risk score applied to Type 2 Diabetes in humans. [19] The authors of the study concluded that, individually, risk alleles only moderately identify increase-of-risk of disease; but identifiable risk is "multiplicatively increased" when information is combined from several known risk polymorphisms.

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