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Single-nucleotide polymorphism
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== Databases == As there are for genes, [[bioinformatics]] databases exist for SNPs. * ''[[dbSNP]]'' is a SNP database from the [[National Center for Biotechnology Information]] (NCBI). {{As of|2015|6|8|df=us}}, dbSNP listed 149,735,377 SNPs in humans.<ref>National Center for Biotechnology Information, United States National Library of Medicine. 2014. NCBI dbSNP build 142 for human. {{cite web |url=https://www.ncbi.nlm.nih.gov/mailman/pipermail/dbsnp-announce/2014q4/000147.html |title=[DBSNP-announce] DBSNP Human Build 142 (GRCh38 and GRCh37.p13) |access-date=2017-09-11 |url-status=live |archive-url=https://web.archive.org/web/20170910221732/https://www.ncbi.nlm.nih.gov/mailman/pipermail/dbsnp-announce/2014q4/000147.html |archive-date=2017-09-10 }}</ref><ref>National Center for Biotechnology Information, United States National Library of Medicine. 2015. NCBI dbSNP build 144 for human. Summary Page. {{cite web |url=https://www.ncbi.nlm.nih.gov/projects/SNP/snp_summary.cgi?view+summary=view+summary&build_id=144 |title=DBSNP Summary |access-date=2017-09-11 |url-status=live |archive-url=https://web.archive.org/web/20170910221718/https://www.ncbi.nlm.nih.gov/projects/SNP/snp_summary.cgi?view+summary=view+summary&build_id=144 |archive-date=2017-09-10 }}</ref> * ''[http://db.systemsbiology.net/kaviar/ Kaviar]''<ref name="Kaviar: an accessible system for testing SNV novelty">{{cite journal | vauthors = Glusman G, Caballero J, Mauldin DE, Hood L, Roach JC | title = Kaviar: an accessible system for testing SNV novelty | journal = Bioinformatics | volume = 27 | issue = 22 | pages = 3216β7 | date = November 2011 | pmid = 21965822 | pmc = 3208392 | doi = 10.1093/bioinformatics/btr540 }}</ref> is a compendium of SNPs from multiple data sources including dbSNP. * ''[[SNPedia]]'' is a wiki-style database supporting personal genome annotation, interpretation and analysis. * The ''[[OMIM]]'' database describes the association between polymorphisms and diseases (e.g., gives diseases in text form) * dbSAP β single amino-acid polymorphism database for protein variation detection<ref>{{cite journal | vauthors = Cao R, Shi Y, Chen S, Ma Y, Chen J, Yang J, Chen G, Shi T | title = dbSAP: single amino-acid polymorphism database for protein variation detection | journal = Nucleic Acids Research | volume = 45 | issue = D1 | pages = D827βD832 | date = January 2017 | pmid = 27903894 | pmc = 5210569 | doi = 10.1093/nar/gkw1096 }}</ref> * The Human Gene Mutation Database provides gene mutations causing or associated with human inherited diseases and functional SNPs * The [[International HapMap Project]], where researchers are identifying [[Tag SNP]]s to be able to determine the collection of [[haplotype]]s present in each subject. * [[GWAS Central]] allows users to visually interrogate the actual summary-level association data in one or more [[genome-wide association studies]]. The International SNP Map working group mapped the sequence flanking each SNP by alignment to the genomic sequence of large-insert clones in Genebank. These alignments were converted to chromosomal coordinates that is shown in Table 1.<ref name="A Map of human genome sequence variation containing 1.42 million single-nucleotide polymorphisms">{{cite journal | vauthors = Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D | title = A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms | journal = Nature | volume = 409 | issue = 6822 | pages = 928β33 | date = February 2001 | pmid = 11237013 | doi = 10.1038/35057149 | author-link5 = Lincoln Stein | bibcode = 2001Natur.409..928S | doi-access = free }}</ref> This list has greatly increased since, with, for instance, the Kaviar database now listing 162 million single nucleotide variants (SNVs). {|class="wikitable" ! Chromosome !! Length(bp) !! All SNPs !! !! [[SNP Consortium|TSC]] SNPs !! |- | || || Total SNPs || kb per SNP || Total SNPs || kb per SNP |- | 1 || 214,066,000 || 129,931 || 1.65 || 75,166 || 2.85 |- | 2 || 222,889,000 || 103,664 || 2.15 || 76,985 || 2.90 |- | 3 || 186,938,000 || 93,140 || 2.01 || 63,669 || 2.94 |- | 4 || 169,035,000 || 84,426 || 2.00 || 65,719 || 2.57 |- | 5 || 170,954,000 || 117,882 || 1.45 || 63,545 || 2.69 |- | 6 || 165,022,000 || 96,317 || 1.71 || 53,797 || 3.07 |- | 7 || 149,414,000 || 71,752 || 2.08 || 42,327 || 3.53 |- | 8 || 125,148,000 || 57,834 || 2.16 || 42,653 || 2.93 |- | 9 || 107,440,000 || 62,013 || 1.73 || 43,020 || 2.50 |- |10 || 127,894,000 || 61,298 || 2.09 || 42,466 || 3.01 |- |11 || 129,193,000 || 84,663 || 1.53 || 47,621 || 2.71 |- |12 || 125,198,000 || 59,245 || 2.11 || 38,136 || 3.28 |- |13 || 93,711,000 || 53,093 || 1.77 || 35,745 || 2.62 |- |14 || 89,344,000 || 44,112 || 2.03 || 29,746 ||3.00 |- |15 || 73,467,000 || 37,814 || 1.94 || 26,524 || 2.77 |- |16 || 74,037,000 || 38,735 || 1.91 || 23,328 || 3.17 |- |17 || 73,367,000 || 34,621 || 2.12 || 19,396 || 3.78 |- |18 || 73,078,000 || 45,135 || 1.62 || 27,028 || 2.70 |- |19 || 56,044,000 || 25,676 || 2.18 || 11,185 || 5.01 |- |20 || 63,317,000 || 29,478 || 2.15 || 17,051 || 3.71 |- |21 || 33,824,000 || 20,916 || 1.62 || 9,103 || 3.72 |- |22 || 33,786,000 || 28,410 || 1.19 || 11,056 || 3.06 |- |X || 131,245,000 || 34,842 || 3.77 || 20,400 || 6.43 |- |Y || 21,753,000 || 4,193 || 5.19 || 1,784 || 12.19 |- |RefSeq || 15,696,674 || 14,534 || 1.08 | |- |Totals || 2,710,164,000 || 1,419,190 || 1.91 ||887,450 || 3.05 |}
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