• Mutation; HGNC; HGNC:2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12249).
  

PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898
Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W.-W., Cho E.K., Dallaire S., Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F.-T., Zhang J.-J., Zerjal T., Zhang J., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E.
Global variation in copy number in the human genome.
Nature 444:444-454(2006)

PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954
Choy E., Yelensky R., Bonakdar S., Plenge R.M., Saxena R., De Jager P.L., Shaw S.Y., Wolfish C.S., Slavik J.M., Cotsapas C., Rivas M.A., Dermitzakis E.T., Cahir-McFarland E., Kieff E.D., Hafler D.A., Daly M.J., Altshuler D.M.
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS Genet. 4:E1000287-E1000287(2008)

PubMed=19797678; DOI=10.1101/gr.097600.109; PMCID=PMC2775589
Nayak R.R., Kearns M., Spielman R.S., Cheung V.G.
Coexpression network based on natural variation in human gene expression reveals gene interactions and functions.
Genome Res. 19:1953-1962(2009)

PubMed=20398888; DOI=10.1016/j.ajhg.2010.03.017; PMCID=PMC2869002
Dombroski B.A., Nayak R.R., Ewens K.G., Ankener W., Cheung V.G., Spielman R.S.
Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells.
Am. J. Hum. Genet. 86:719-729(2010)

PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022
Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M., Spielman R.S.
Polymorphic cis- and trans-regulation of human gene expression.
PLoS Biol. 8:e1000480.1-e1000480.14(2010)

PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424
Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M., Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.
Population-genetic properties of differentiated human copy-number polymorphisms.
Am. J. Hum. Genet. 88:317-332(2011)

PubMed=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453
Lappalainen T., Sammeth M., Friedlander M.R., 't Hoen P.A.C., Monlong J., Rivas M.A., Gonzalez-Porta M., Kurbatova N., Griebel T., Ferreira P.G., Barann M., Wieland T., Greger L., van Iterson M., Almlof J.C., Ribeca P., Pulyakhina I., Esser D., Giger T., Tikhonov A., Sultan M., Bertier G., MacArthur D.G., Lek M., Lizano E., Buermans H.P.J., Padioleau I., Schwarzmayr T., Karlberg O., Ongen H., Kilpinen H., Beltran S., Gut M., Kahlem K., Amstislavskiy V., Stegle O., Pirinen M., Montgomery S.B., Donnelly P., McCarthy M.I., Flicek P., Strom T.-M., Lehrach H., Schreiber S., Sudbrak R., Carracedo A., Antonarakis S.E., Hasler R., Syvanen A.-C., van Ommen G.-J.B., Brazma A., Meitinger T., Rosenstiel P., Guigo R., Gut I.G., Estivill X., Dermitzakis E.T.
Geuvadis Consortium
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature 501:506-511(2013)

PubMed=27617755; DOI=10.1038/srep32406; PMCID=PMC5019111
Ferreira P.G., Oti M., Barann M., Wieland T., Ezquina S., Friedlander M.R., Rivas M.A., Esteve-Codina A., Rosenstiel P., Strom T.-M., Lappalainen T., Guigo R., Sammeth M.
Geuvadis Consortium
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
Sci. Rep. 6:32406-32406(2016)

PubMed=29116076; DOI=10.1038/s41467-017-01467-7; PMCID=PMC5677018
Garieri M., Delaneau O., Santoni F.A., Fish R.J., Mull D., Carninci P., Dermitzakis E.T., Antonarakis S.E., Fort A.
The effect of genetic variation on promoter usage and enhancer activity.
Nat. Commun. 8:1358.1-1358.9(2017)

PubMed=31048460; DOI=10.1126/science.aat8266
Delaneau O., Zazhytska M., Borel C., Giannuzzi G., Rey G., Howald C., Kumar S., Ongen H., Popadin K.Y., Marbach D., Ambrosini G., Bielser D., Hacker D.L., Romano L., Ribaux P., Wiederkehr M., Falconnet E., Bucher P., Bergmann S., Antonarakis S.E., Reymond A., Dermitzakis E.T.
Chromatin three-dimensional interactions mediate genetic effects on gene expression.
Science 364:eaat8266.1-eaat8266.10(2019)