SNP500V HUMAN VARIATION PANEL

Description: SNP500CANCER RESOURCE OF THE CANCER GENOME ANATOMY PROJECT IN THE NATIONAL CANCER INSTITUTE

Aliquot Size: 10 µg each

Sex: Males: 42 Females: 68

Huang CR, Schneider AM, Lu Y, Niranjan T, Shen P, Robinson MA, Steranka JP, Valle D, Civin CI, Wang T, Wheelan SJ, Ji H, Boeke JD, Burns KH, Mobile interspersed repeats are major structural variants in the human genome Cell141:1171-82 2010
PubMed ID: 20602999
 
Canova C, Hashibe M, Simonato L, Nelis M, Metspalu A, Lagiou P, Trichopoulos D, Ahrens W, Pigeot I, Merletti F, Richiardi L, Talamini R, Barzan L, Macfarlane GJ, Macfarlane TV, Holcátová I, Bencko V, Benhamou S, Bouchardy C, Kjaerheim K, Lowry R, Agudo A, Castellsagué X, Conway DI, McKinney PA, Znaor A, McCartan BE, Healy CM, Marron M, Brennan P, Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project Cancer research69:2956-65 2009
PubMed ID: 19339270
 
Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS, Mutations in the SBDS gene in acquired aplastic anemia mutation69:2956-65 2007
PubMed ID: 17478638
 
Packer BR, Yeager M, Burdett L, Welch R, Beerman M, Qi L, Sicotte H, Staats B, Acharya M, Crenshaw A, Eckert A, Puri V, Gerhard DS, Chanock SJ, SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. Nucleic Acids Res34(Database issue:D617-21 2006
PubMed ID: 16381944
 
Fredman D, Sawyer SL, Strömqvist L, Mottagui-Tabar S, Kidd KK, Wahlestedt C, Chanock SJ, Brookes AJ, Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection Human mutation27:173-86 2006
PubMed ID: 16429399
 
Pachkowski BF, Winkel S, Kubota Y, Swenberg JA, Millikan RC, Nakamura J, XRCC1 genotype and breast cancer: functional studies and epidemiologic data show interactions between XRCC1 codon 280 His and smoking Cancer research66:2860-8 2006
PubMed ID: 16510609
 
Lightfoot TJ, Skibola CF, Willett EV, Skibola DR, Allan JM, Coppede F, Adamson PJ, Morgan GJ, Roman E, Smith MT, Risk of non-Hodgkin lymphoma associated with polymorphisms in folate-metabolizing genes Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology14:2999-3003 2005
PubMed ID: 16365025
 
Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS, Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med352(14):1413-24 2005
PubMed ID: 15814878
 
Hughes AL, Packer B, Welch R, Bergen AW, Chanock SJ, Yeager M, Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci Genetics170:1181-7 2005
PubMed ID: 15911586
 
Millikan RC, Player JS, Decotret AR, Tse CK, Keku T, Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology14:2326-34 2005
PubMed ID: 16214912
 
Hughes AL, Packer B, Welch R, Chanock SJ, Yeager M, High level of functional polymorphism indicates a unique role of natural selection at human immune system loci Immunogenetics57:821-7 2005
PubMed ID: 16261383
 
Packer BR, Yeager M, Staats B, Welch R, Crenshaw A, Kiley M, Eckert A, Beerman M, Miller E, Bergen A, Rothman N, Strausberg R, Chanock SJ, SNP500Cancer: a public resource for sequence validation and assay development for genetic variation in candidate genes. Nucleic Acids Res32:D528-32 2004
PubMed ID: 14681474
 
Lei B, Morris DP, Smith MP, Svetkey LP, Newman MF, Rotter JI, Buchanan TA, Beckstrom-Sternberg SM, Green ED, Schwinn DA, Novel human alpha1a-adrenoceptor single nucleotide polymorphisms alter receptor pharmacology and biological function Naunyn-Schmiedeberg's archives of pharmacology371:229-39 2004
PubMed ID: 15900517
 
Mosse YP, Laudenslager M, Khazi D, Carlisle AJ, Winter CL, Rappaport E, Maris JM, Germline PHOX2B mutation in hereditary neuroblastoma. Am J Hum Genet75(4):727-30 2004
PubMed ID: 15338462
 
Kamangar F, Abnet CC, Hutchinson AA, Newschaffer CJ, Helzlsouer K, Shugart YY, Pietinen P, Dawsey SM, Albanes D, Virtamo J, Taylor PR, Polymorphisms in inflammation-related genes and risk of gastric cancer (Finland) Cancer causes & control : CCC17:117-25 2004
PubMed ID: 16411061
 
Landi S, Gemignani F, Gioia-Patricola L, Chabrier A, Canzian F, Evaluation of a microarray for genotyping polymorphisms related to xenobiotic metabolism and DNA repair. Biotechniques35(4):816-20, 822, 824-7 2003
PubMed ID: 14579748

Catalog IDSexFamilyRelationshipGeneMutationAffected
NA12912Female1582mother   
NA12911Male1582father   
NA12909Female1477paternal grandmother   
NA12841Female1458paternal grandmother   
NA12813Female1454paternal grandmother   
NA12749Female1444paternal grandmother   
NA12273Female1418paternal grandmother   
NA10833Female1413mother   
NA10832Male1413father   
NA10831Female1408mother   
NA11993Female1362paternal grandmother   
NA10861Female1362mother   
NA10860Male1362father   
NA10859Female1347mother   
NA10858Male1347father   
NA07348Female1345mother   
NA07349Male1345father   
NA06987Female1333mother   
NA07038Male1333father   
NA10849Female1332mother   
NA06990Female1331mother   
NA07057Male1331father   
NA17065Female    Yes
NA17634Female proband  No
NA17448Female proband  No
NA17443Female proband  No
NA17028Female    Yes
NA17061Female    Yes
NA17167Female    No
NA17074Female    No
NA17037Female    No
NA17038Female    No
NA17172Female    No
NA17317Female    Unknown
NA17312Female    Yes
NA17158Female    No
NA17033Female    No
NA17684Female proband  No
NA17040Female    No
NA17068Female    No
NA17072Female    Yes
NA17166Female    No
NA17030Female    No
NA17036Female    No
NA17039Female    No
NA17029Female    Yes
NA17032Female    No
NA17161Female    No
NA17034Female    No
NA17035Female    No
NA17076Female    No
NA17071Female    No
NA17063Female    Yes
NA17073Female    Yes
NA17062Female    Yes
NA10472Female proband   
NA10473Female proband   
NA10493Female proband   
NA10496Female proband   
NA11521Female proband   
NA11523Female proband   
NA11524Female proband   
NA11525Female proband   
NA13617Female proband   
NA13618Female proband   
NA17018Female    No
NA17019Female  HLA-BHLA-B*1502 (Mono), HLA-B*1511 (Mono)No
NA17057Female  CYP2D6, UGT1A16 TA Repeats (Bi), PRO34SER (Mono)No
NA17058Female  UGT1A16 TA Repeats (Mono), 7 TA Repeats (Mono)No
NA17086Female    No
NA17087Female    No
NA17387Female    No
NA17391Female    No
NA17060Male    No
NA17075Male    Yes
NA17078Male  HLA-BHLA-B*5703 (Mono)Yes
NA17315Male    Unknown
NA17701Male proband  No
NA17067Male    Yes
NA17710Male proband  No
NA17314Male    No
NA17698Male proband  No
NA17700Male proband  No
NA17316Male    Yes
NA17636Male proband  No
NA17066Male    No
NA17077Male    No
NA17064Male    No
NA17313Male    Yes
NA10469Male proband   
NA10470Male proband   
NA10492Male proband   
NA10494Male proband   
NA10495Male proband   
NA11522Male proband   
NA13607Male proband   
NA13608Male proband   
NA13609Male proband   
NA13610Male proband   
NA13611Male proband   
NA13619Male proband   
NA17016Male    No
NA17017Male    No
NA17020Male    No
NA17056Male    No
NA17088Male    No
NA17388Male    No
NA17389Male    No