MMEL1 c.1867+338C>A

Variant ID: 1-2524915-G-T

NM_033467.3(MMEL1):c.1867+338C>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Association between Microbiome-Related Human Genetic Variants and Fasting Plasma Glucose in a High-Cardiovascular-Risk Mediterranean Population.

Medicina (Kaunas, Lithuania)
Asensio, Eva M EM; Ortega-Azorín, Carolina C; Barragán, Rocío R; Alvarez-Sala, Andrea A; Sorlí, José V JV; Pascual, Eva C EC; Fernández-Carrión, Rebeca R; Villamil, Laura V LV; Corella, Dolores D; Coltell, Oscar O
Publication Date: 2022-09-07

Variant appearance in text: rs10752747
PubMed Link: 36143914
Variant Present in the following documents:
  • Main text
  • medicina-58-01238.pdf
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Summary-data-based Mendelian randomization prioritizes potential druggable targets for multiple sclerosis.

Brain Communications
Jacobs, Benjamin M BM; Taylor, Thomas T; Awad, Amine A; Baker, David D; Giovanonni, Gavin G; Noyce, Alastair J AJ; Dobson, Ruth R
Publication Date: 2020

Variant appearance in text: rs10752747
PubMed Link: 33005893
Variant Present in the following documents:
  • Main text
  • fcaa119.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: rs10752747
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis.

Arthritis Research & Therapy
Arismendi, Maria M; Giraud, Matthieu M; Ruzehaji, Nadira N; Dieudé, Philippe P; Koumakis, Eugenie E; Ruiz, Barbara B; Airo, Paolo P; Cusi, Daniele D; Matucci-Cerinic, Marco M; Salvi, Erika E; Cuomo, Giovanna G; Hachulla, Eric E; Diot, Elisabeth E; Caramaschi, Paola P; Riccieri, Valeria V; Avouac, Jérôme J; Kayser, Cristiane C; Allanore, Yannick Y
Publication Date: 2015-03-21

Variant appearance in text: rs10752747
PubMed Link: 25880423
Variant Present in the following documents:
  • Main text
  • 13075_2015_Article_572.pdf
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Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

Human Molecular Genetics
Juran, Brian D BD; Hirschfield, Gideon M GM; Invernizzi, Pietro P; Atkinson, Elizabeth J EJ; Li, Yafang Y; Xie, Gang G; Kosoy, Roman R; Ransom, Michael M; Sun, Ye Y; Bianchi, Ilaria I; Schlicht, Erik M EM; Lleo, Ana A; Coltescu, Catalina C; Bernuzzi, Francesca F; Podda, Mauro M; Lammert, Craig C; Shigeta, Russell R; Chan, Landon L LL; Balschun, Tobias T; Marconi, Maurizio M; Cusi, Daniele D; Heathcote, E Jenny EJ; Mason, Andrew L AL; Myers, Robert P RP; Milkiewicz, Piotr P; Odin, Joseph A JA; Luketic, Velimir A VA; Bacon, Bruce R BR; Bodenheimer, Henry C HC; Liakina, Valentina V; Vincent, Catherine C; Levy, Cynthia C; Franke, Andre A; Gregersen, Peter K PK; Bossa, Fabrizio F; Gershwin, M Eric ME; deAndrade, Mariza M; Amos, Christopher I CI; , ; Lazaridis, Konstantinos N KN; Seldin, Michael F MF; Siminovitch, Katherine A KA
Publication Date: 2012-12-01

Variant appearance in text: rs10752747
PubMed Link: 22936693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

Nature Genetics
Mells, George F GF; Floyd, James A B JA; Morley, Katherine I KI; Cordell, Heather J HJ; Franklin, Christopher S CS; Shin, So-Youn SY; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Day, Darren B DB; Ducker, Samantha J SJ; Muriithi, Agnes W AW; Wheater, Elizabeth F EF; Hammond, Christopher J CJ; Dawwas, Muhammad F MF; , ; , ; Jones, David E DE; Peltonen, Leena L; Alexander, Graeme J GJ; Sandford, Richard N RN; Anderson, Carl A CA
Publication Date: 2011-03-13

Variant appearance in text: rs10752747
PubMed Link: 21399635
Variant Present in the following documents:
  • Main text
  • NIHMS34438-supplement-1.pdf
View BVdb publication page