SLC22A5 c.498-2789G>A

Variant ID: 5-131717050-G-A

NM_003060.3(SLC22A5):c.498-2789G>A

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection.

Nature Communications
Pankratov, Vasili V; Yunusbaeva, Milyausha M; Ryakhovsky, Sergei S; Zarodniuk, Maksym M; , ; Yunusbayev, Bayazit B
Publication Date: 2022-11-18

Variant appearance in text: rs17622208
PubMed Link: 36400766
Variant Present in the following documents:
  • 41467_2022_34461_MOESM1_ESM.pdf
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Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling.

Arthritis & Rheumatology (Hoboken, N.J.)
Soomro, Mehreen M; Stadler, Michael M; Dand, Nick N; Bluett, James J; Jadon, Deepak D; Jalali-Najafabadi, Farideh F; Duckworth, Michael M; Ho, Pauline P; Marzo-Ortega, Helena H; Helliwell, Philip S PS; Ryan, Anthony W AW; Kane, David D; Korendowych, Eleanor E; Simpson, Michael A MA; Packham, Jonathan J; McManus, Ross R; Gabay, Cem C; Lamacchia, Céline C; Nissen, Michael J MJ; Brown, Matthew A MA; Verstappen, Suzanne M M SMM; Van Staa, Tjeerd T; Barker, Jonathan N JN; Smith, Catherine H CH; , ; , ; FitzGerald, Oliver O; McHugh, Neil N; Warren, Richard B RB; Bowes, John J; Barton, Anne A
Publication Date: 2022-09

Variant appearance in text: rs17622208
PubMed Link: 35507331
Variant Present in the following documents:
  • Main text
  • ART-74-1535.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: rs17622208
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.

Scientific Reports
Li, Xue X; Song, Peige P; Timofeeva, Maria M; Meng, Xiangrui X; Rudan, Igor I; Little, Julian J; Satsangi, Jack J; Campbell, Harry H; Theodoratou, Evropi E
Publication Date: 2016-09-27

Variant appearance in text: rs17622208
PubMed Link: 27670835
Variant Present in the following documents:
  • Main text
  • srep34076-s1.pdf
  • srep34076.pdf
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Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data.

Plos One
Jha, Pankaj P; Lu, Dongsheng D; Xu, Shuhua S
Publication Date: 2015

Variant appearance in text: rs17622208
PubMed Link: 26053627
Variant Present in the following documents:
  • Main text
  • pone.0129023.pdf
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Metabolic heritability at birth: implications for chronic disease research.

Human Genetics
Ryckman, Kelli K KK; Smith, Caitlin J CJ; Jelliffe-Pawlowski, Laura L LL; Momany, Allison M AM; Berberich, Stanton L SL; Murray, Jeffrey C JC
Publication Date: 2014-08

Variant appearance in text: rs17622208
PubMed Link: 24850141
Variant Present in the following documents:
  • Main text
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Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions.

World Journal Of Gastroenterology
Sarlos, Patricia P; Varszegi, Dalma D; Csongei, Veronika V; Magyari, Lili L; Jaromi, Luca L; Nagy, Lajos L; Melegh, Bela B
Publication Date: 2014-01-07

Variant appearance in text: rs17622208
PubMed Link: 24415875
Variant Present in the following documents:
  • Main text
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Contribution of higher risk genes and European admixture to Crohn's disease in African Americans.

Inflammatory Bowel Diseases
Wang, Ming-Hsi MH; Okazaki, Toshihiko T; Kugathasan, Subra S; Cho, Judy H JH; Isaacs, Kim L KL; Lewis, James D JD; Smoot, Duane T DT; Valentine, John F JF; Kader, Howard A HA; Ford, Jean G JG; Harris, Mary L ML; Oliva-Hemker, Maria M; Cuffari, Carmen C; Torbenson, Michael S MS; Duerr, Richard H RH; Silverberg, Mark S MS; Rioux, John D JD; Taylor, Kent D KD; Nguyen, Geoffrey C GC; Wu, Yuqiong Y; Datta, Lisa W LW; Hooker, Stanley S; Dassopoulos, Themistocles T; Kittles, Rick A RA; Kao, Linda W H LW; Brant, Steven R SR
Publication Date: 2012-12

Variant appearance in text: rs17622208
PubMed Link: 22411504
Variant Present in the following documents:
  • Main text
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Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis.

World Journal Of Gastroenterology
Naser, Saleh A SA; Arce, Melissa M; Khaja, Anam A; Fernandez, Marlene M; Naser, Najih N; Elwasila, Sammer S; Thanigachalam, Saisathya S
Publication Date: 2012-02-07

Variant appearance in text: rs17622208
PubMed Link: 22346247
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

American Journal Of Human Genetics
Lanktree, Matthew B MB; Guo, Yiran Y; Murtaza, Muhammed M; Glessner, Joseph T JT; Bailey, Swneke D SD; Onland-Moret, N Charlotte NC; Lettre, Guillaume G; Ongen, Halit H; Rajagopalan, Ramakrishnan R; Johnson, Toby T; Shen, Haiqing H; Nelson, Christopher P CP; Klopp, Norman N; Baumert, Jens J; Padmanabhan, Sandosh S; Pankratz, Nathan N; Pankow, James S JS; Shah, Sonia S; Taylor, Kira K; Barnard, John J; Peters, Bas J BJ; Maloney, Cliona M CM; Lobmeyer, Maximilian T MT; Stanton, Alice A; Zafarmand, M Hadi MH; Romaine, Simon P R SP; Mehta, Amar A; van Iperen, Erik P A EP; Gong, Yan Y; Price, Tom S TS; Smith, Erin N EN; Kim, Cecilia E CE; Li, Yun R YR; Asselbergs, Folkert W FW; Atwood, Larry D LD; Bailey, Kristian M KM; Bhatt, Deepak D; Bauer, Florianne F; Behr, Elijah R ER; Bhangale, Tushar T; Boer, Jolanda M A JM; Boehm, Bernhard O BO; Bradfield, Jonathan P JP; Brown, Morris M; Braund, Peter S PS; Burton, Paul R PR; Carty, Cara C; Chandrupatla, Hareesh R HR; Chen, Wei W; Connell, John J; Dalgeorgou, Chrysoula C; Boer, Anthonius de Ad; Drenos, Fotios F; Elbers, Clara C CC; Fang, James C JC; Fox, Caroline S CS; Frackelton, Edward C EC; Fuchs, Barry B; Furlong, Clement E CE; Gibson, Quince Q; Gieger, Christian C; Goel, Anuj A; Grobbee, Diederik E DE; Hastie, Claire C; Howard, Philip J PJ; Huang, Guan-Hua GH; Johnson, W Craig WC; Li, Qing Q; Kleber, Marcus E ME; Klein, Barbara E K BE; Klein, Ronald R; Kooperberg, Charles C; Ky, Bonnie B; Lacroix, Andrea A; Lanken, Paul P; Lathrop, Mark M; Li, Mingyao M; Marshall, Vanessa V; Melander, Olle O; Mentch, Frank D FD; Meyer, Nuala J NJ; Monda, Keri L KL; Montpetit, Alexandre A; Murugesan, Gurunathan G; Nakayama, Karen K; Nondahl, Dave D; Onipinla, Abiodun A; Rafelt, Suzanne S; Newhouse, Stephen J SJ; Otieno, F George FG; Patel, Sanjey R SR; Putt, Mary E ME; Rodriguez, Santiago S; Safa, Radwan N RN; Sawyer, Douglas B DB; Schreiner, Pamela J PJ; Simpson, Claire C; Sivapalaratnam, Suthesh S; Srinivasan, Sathanur R SR; Suver, Christine C; Swergold, Gary G; Sweitzer, Nancy K NK; Thomas, Kelly A KA; Thorand, Barbara B; Timpson, Nicholas J NJ; Tischfield, Sam S; Tobin, Martin M; Tomaszewski, Maciej M; Tomaszweski, Maciej M; Verschuren, W M Monique WM; Wallace, Chris C; Winkelmann, Bernhard B; Zhang, Haitao H; Zheng, Dongling D; Zhang, Li L; Zmuda, Joseph M JM; Clarke, Robert R; Balmforth, Anthony J AJ; Danesh, John J; Day, Ian N IN; Schork, Nicholas J NJ; de Bakker, Paul I W PI; Delles, Christian C; Duggan, David D; Hingorani, Aroon D AD; Hirschhorn, Joel N JN; Hofker, Marten H MH; Humphries, Steve E SE; Kivimaki, Mika M; Lawlor, Debbie A DA; Kottke-Marchant, Kandice K; Mega, Jessica L JL; Mitchell, Braxton D BD; Morrow, David A DA; Palmen, Jutta J; Redline, Susan S; Shields, Denis C DC; Shuldiner, Alan R AR; Sleiman, Patrick M PM; Smith, George Davey GD; Farrall, Martin M; Jamshidi, Yalda Y; Christiani, David C DC; Casas, Juan P JP; Hall, Alistair S AS; Doevendans, Pieter A PA; Christie, Jason D JD; Berenson, Gerald S GS; Murray, Sarah S SS; Illig, Thomas T; Dorn, Gerald W GW; Cappola, Thomas P TP; Boerwinkle, Eric E; Sever, Peter P; Rader, Daniel J DJ; Reilly, Muredach P MP; Caulfield, Mark M; Talmud, Philippa J PJ; Topol, Eric E; Engert, James C JC; Wang, Kai K; Dominiczak, Anna A; Hamsten, Anders A; Curtis, Sean P SP; Silverstein, Roy L RL; Lange, Leslie A LA; Sabatine, Marc S MS; Trip, Mieke M; Saleheen, Danish D; Peden, John F JF; Cruickshanks, Karen J KJ; März, Winfried W; O'Connell, Jeffrey R JR; Klungel, Olaf H OH; Wijmenga, Cisca C; Maitland-van der Zee, Anke Hilse AH; Schadt, Eric E EE; Johnson, Julie A JA; Jarvik, Gail P GP; Papanicolaou, George J GJ; , ; Grant, Struan F A SF; Munroe, Patricia B PB; North, Kari E KE; Samani, Nilesh J NJ; Koenig, Wolfgang W; Gaunt, Tom R TR; Anand, Sonia S SS; van der Schouw, Yvonne T YT; , ; Soranzo, Nicole N; Fitzgerald, Garret A GA; Reiner, Alex A; Hegele, Robert A RA; Hakonarson, Hakon H; Keating, Brendan J BJ
Publication Date: 2011-01-07

Variant appearance in text: rs17622208
PubMed Link: 21194676
Variant Present in the following documents:
  • Main text
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Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.

Annals Of Human Genetics
Lee, Jessica J JJ; Essers, Jonah B JB; Kugathasan, Subra S; Escher, Johanna C JC; Lettre, Guillaume G; Butler, Johannah L JL; Stephens, Michael C MC; Ramoni, Marco F MF; Grand, Richard J RJ; Hirschhorn, Joel J
Publication Date: 2010-11

Variant appearance in text: rs17622208
PubMed Link: 20846217
Variant Present in the following documents:
  • Main text
View BVdb publication page



MAST3: a novel IBD risk factor that modulates TLR4 signaling.

Genes And Immunity
Labbé, C C; Goyette, P P; Lefebvre, C C; Stevens, C C; Green, T T; Tello-Ruiz, M K MK; Cao, Z Z; Landry, A L AL; Stempak, J J; Annese, V V; Latiano, A A; Brant, S R SR; Duerr, R H RH; Taylor, K D KD; Cho, J H JH; Steinhart, A H AH; Daly, M J MJ; Silverberg, M S MS; Xavier, R J RJ; Rioux, J D JD
Publication Date: 2008-10

Variant appearance in text: rs17622208
PubMed Link: 18650832
Variant Present in the following documents:
  • Main text
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The 5q31 variants associated with psoriasis and Crohn's disease are distinct.

Human Molecular Genetics
Li, Yonghong Y; Chang, Monica M; Schrodi, Steven J SJ; Callis-Duffin, Kristina P KP; Matsunami, Nori N; Civello, Daniel D; Bui, Nam N; Catanese, Joseph J JJ; Leppert, Mark F MF; Krueger, Gerald G GG; Begovich, Ann B AB
Publication Date: 2008-10-01

Variant appearance in text: rs17622208
PubMed Link: 18614543
Variant Present in the following documents:
  • ddn196_1.pdf
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Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions.

Inflammatory Bowel Diseases
Okazaki, Toshihiko T; Wang, Ming-Hsi MH; Rawsthorne, Patricia P; Sargent, Michael M; Datta, Lisa Wu LW; Shugart, Yin Yao YY; Bernstein, Charles N CN; Brant, Steven R SR
Publication Date: 2008-11

Variant appearance in text: rs17622208
PubMed Link: 18521914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for association of OCTN genes and IBD5 with ulcerative colitis.

Gut
Waller, S S; Tremelling, M M; Bredin, F F; Godfrey, L L; Howson, J J; Parkes, M M
Publication Date: 2006-06

Variant appearance in text: rs17622208
PubMed Link: 16361305
Variant Present in the following documents:
  • Main text
View BVdb publication page