KIAA0391 c.1275+32189T>C

Variant ID: 14-35682172-T-C

NM_014672.3(KIAA0391):c.1275+32189T>C

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Apremilast Pharmacogenomics in Russian Patients with Moderate-to-Severe and Severe Psoriasis.

Journal Of Personalized Medicine
Verbenko, Dmitry A DA; Karamova, Arfenya E AE; Artamonova, Olga G OG; Deryabin, Dmitry G DG; Rakitko, Alexander A; Chernitsov, Alexandr A; Krasnenko, Anna A; Elmuratov, Artem A; Solomka, Victoria S VS; Kubanov, Alexey A AA
Publication Date: 2020-12-29

Variant appearance in text: rs12586317
PubMed Link: 33383665
Variant Present in the following documents:
  • Main text
  • jpm-11-00020.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs12586317
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.

Scientific Reports
Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M
Publication Date: 2018-01-30

Variant appearance in text: rs12586317
PubMed Link: 29382849
Variant Present in the following documents:
  • 41598_2017_19017_MOESM1_ESM.pdf
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Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Human Molecular Genetics
Dand, Nick N; Mucha, Sören S; Tsoi, Lam C LC; Mahil, Satveer K SK; Stuart, Philip E PE; Arnold, Andreas A; Baurecht, Hansjörg H; Burden, A David AD; Callis Duffin, Kristina K; Chandran, Vinod V; Curtis, Charles J CJ; Das, Sayantan S; Ellinghaus, David D; Ellinghaus, Eva E; Enerback, Charlotta C; Esko, Tõnu T; Gladman, Dafna D DD; Griffiths, Christopher E M CEM; Gudjonsson, Johann E JE; Hoffman, Per P; Homuth, Georg G; Hüffmeier, Ulrike U; Krueger, Gerald G GG; Laudes, Matthias M; Lee, Sang Hyuck SH; Lieb, Wolfgang W; Lim, Henry W HW; Löhr, Sabine S; Mrowietz, Ulrich U; Müller-Nurayid, Martina M; Nöthen, Markus M; Peters, Annette A; Rahman, Proton P; Reis, André A; Reynolds, Nick J NJ; Rodriguez, Elke E; Schmidt, Carsten O CO; Spain, Sarah L SL; Strauch, Konstantin K; Tejasvi, Trilokraj T; Voorhees, John J JJ; Warren, Richard B RB; Weichenthal, Michael M; Weidinger, Stephan S; Zawistowski, Matthew M; Nair, Rajan P RP; Capon, Francesca F; Smith, Catherine H CH; Trembath, Richard C RC; Abecasis, Goncalo R GR; Elder, James T JT; Franke, Andre A; Simpson, Michael A MA; Barker, Jonathan N JN
Publication Date: 2017-11-01

Variant appearance in text: rs12586317
PubMed Link: 28973304
Variant Present in the following documents:
  • dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx, sheet 2
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Interactions of the Immune System with Skin and Bone Tissue in Psoriatic Arthritis: A Comprehensive Review.

Clinical Reviews In Allergy & Immunology
Sukhov, Andrea A; Adamopoulos, Iannis E IE; Maverakis, Emanual E
Publication Date: 2016-08

Variant appearance in text: rs12586317
PubMed Link: 26780035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Emerging biomarkers in psoriatic arthritis.

Iubmb Life
Paek, So Yeon SY; Han, Ling L; Weiland, Matthew M; Lu, Chuan-Jian CJ; McKinnon, Kathleen K; Zhou, Li L; Lim, Henry W HW; Elder, James T JT; Mi, Qing-Sheng QS
Publication Date: 2015-12

Variant appearance in text: rs12586317
PubMed Link: 26602058
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

American Journal Of Human Genetics
Baurecht, Hansjörg H; Hotze, Melanie M; Brand, Stephan S; Büning, Carsten C; Cormican, Paul P; Corvin, Aiden A; Ellinghaus, David D; Ellinghaus, Eva E; Esparza-Gordillo, Jorge J; Fölster-Holst, Regina R; Franke, Andre A; Gieger, Christian C; Hubner, Norbert N; Illig, Thomas T; Irvine, Alan D AD; Kabesch, Michael M; Lee, Young A E YA; Lieb, Wolfgang W; Marenholz, Ingo I; McLean, W H Irwin WH; Morris, Derek W DW; Mrowietz, Ulrich U; Nair, Rajan R; Nöthen, Markus M MM; Novak, Natalija N; O'Regan, Grainne M GM; , ; Schreiber, Stefan S; Smith, Catherine C; Strauch, Konstantin K; Stuart, Philip E PE; Trembath, Richard R; Tsoi, Lam C LC; Weichenthal, Michael M; Barker, Jonathan J; Elder, James T JT; Weidinger, Stephan S; Cordell, Heather J HJ; Brown, Sara J SJ
Publication Date: 2015-01-08

Variant appearance in text: rs12586317
PubMed Link: 25574825
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genetics of proteasome diseases.

Scientifica
Gomes, Aldrin V AV
Publication Date: 2013

Variant appearance in text: rs12586317
PubMed Link: 24490108
Variant Present in the following documents:
  • Main text
  • SCIENTIFICA2013-637629.pdf
View BVdb publication page



The role of 39 psoriasis risk variants on age of psoriasis onset.

Isrn Dermatology
Lu, Yingchang Y; Kane, Sinae S; Chen, Haoyan H; Leon, Argentina A; Levin, Ethan E; Nguyen, Tien T; Debbaneh, Maya M; Millsop, Jillian W JW; Gupta, Rishu R; Huynh, Monica M; Butler, Daniel D; Cordoro, Kelly K; Liao, Wilson W
Publication Date: 2013

Variant appearance in text: rs12586317
PubMed Link: 24175098
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.

Human Molecular Genetics
Weidinger, Stephan S; Willis-Owen, Saffron A G SA; Kamatani, Yoichiro Y; Baurecht, Hansjörg H; Morar, Nilesh N; Liang, Liming L; Edser, Pauline P; Street, Teresa T; Rodriguez, Elke E; O'Regan, Grainne M GM; Beattie, Paula P; Fölster-Holst, Regina R; Franke, Andre A; Novak, Natalija N; Fahy, Caoimhe M CM; Winge, Mårten C G MC; Kabesch, Michael M; Illig, Thomas T; Heath, Simon S; Söderhäll, Cilla C; Melén, Erik E; Pershagen, Göran G; Kere, Juha J; Bradley, Maria M; Lieden, Agne A; Nordenskjold, Magnus M; Harper, John I JI; McLean, W H Irwin WH; Brown, Sara J SJ; Cookson, William O C WO; Lathrop, G Mark GM; Irvine, Alan D AD; Moffatt, Miriam F MF
Publication Date: 2013-12-01

Variant appearance in text: rs12586317
PubMed Link: 23886662
Variant Present in the following documents:
  • Main text
  • ddt317.pdf
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Genetic associations of psoriasis in a Pakistani population.

The British Journal Of Dermatology
Shaiq, P A PA; Stuart, P E PE; Latif, A A; Schmotzer, C C; Kazmi, A H AH; Khan, M S MS; Azam, M M; Tejasvi, T T; Voorhees, J J JJ; Raja, G K GK; Elder, J T JT; Qamar, R R; Nair, R P RP
Publication Date: 2013-08

Variant appearance in text: rs12586317
PubMed Link: 23495851
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analysis identifies three psoriasis susceptibility loci.

Nature Genetics
Stuart, Philip E PE; Nair, Rajan P RP; Ellinghaus, Eva E; Ding, Jun J; Tejasvi, Trilokraj T; Gudjonsson, Johann E JE; Li, Yun Y; Weidinger, Stephan S; Eberlein, Bernadette B; Gieger, Christian C; Wichmann, H Erich HE; Kunz, Manfred M; Ike, Robert R; Krueger, Gerald G GG; Bowcock, Anne M AM; Mrowietz, Ulrich U; Lim, Henry W HW; Voorhees, John J JJ; Abecasis, Gonçalo R GR; Weichenthal, Michael M; Franke, Andre A; Rahman, Proton P; Gladman, Dafna D DD; Elder, James T JT
Publication Date: 2010-11

Variant appearance in text: rs12586317
PubMed Link: 20953189
Variant Present in the following documents:
  • Main text
  • nihms-238920.pdf
View BVdb publication page