HLA-B c.*4+59A>T

Variant ID: 6-31322197-T-A

NM_005514.6(HLA-B):c.*4+59A>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2428494
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Fine-mapping studies distinguish genetic risks for childhood- and adult-onset asthma in the HLA region.

Genome Medicine
Clay, Selene M SM; Schoettler, Nathan N; Goldstein, Andrew M AM; Carbonetto, Peter P; Dapas, Matthew M; Altman, Matthew C MC; Rosasco, Mario G MG; Gern, James E JE; Jackson, Daniel J DJ; Im, Hae Kyung HK; Stephens, Matthew M; Nicolae, Dan L DL; Ober, Carole C
Publication Date: 2022-05-24

Variant appearance in text: rs2428494
PubMed Link: 35606880
Variant Present in the following documents:
  • Main text
  • 13073_2022_1058_MOESM1_ESM.pdf
  • 13073_2022_Article_1058.pdf
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Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

The Lancet. Respiratory Medicine
Pividori, Milton M; Schoettler, Nathan N; Nicolae, Dan L DL; Ober, Carole C; Im, Hae Kyung HK
Publication Date: 2019-06

Variant appearance in text: rs2428494
PubMed Link: 31036433
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lessons Learned From GWAS of Asthma.

Allergy, Asthma & Immunology Research
Kim, Kyung Won KW; Ober, Carole C
Publication Date: 2019-03

Variant appearance in text: rs2428494
PubMed Link: 30661310
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of deleterious and regulatory genomic variations in known asthma loci.

Respiratory Research
Neville, Matthew D C MDC; Choi, Jihoon J; Lieberman, Jonathan J; Duan, Qing Ling QL
Publication Date: 2018-12-12

Variant appearance in text: rs2428494
PubMed Link: 30541564
Variant Present in the following documents:
  • Main text
  • 12931_2018_Article_953.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs2428494
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

Nature Genetics
Waage, Johannes J; Standl, Marie M; Curtin, John A JA; Jessen, Leon E LE; Thorsen, Jonathan J; Tian, Chao C; Schoettler, Nathan N; , ; , ; Flores, Carlos C; Abdellaoui, Abdel A; Ahluwalia, Tarunveer S TS; Alves, Alexessander C AC; Amaral, Andre F S AFS; Antó, Josep M JM; Arnold, Andreas A; Barreto-Luis, Amalia A; Baurecht, Hansjörg H; van Beijsterveldt, Catharina E M CEM; Bleecker, Eugene R ER; Bonàs-Guarch, Sílvia S; Boomsma, Dorret I DI; Brix, Susanne S; Bunyavanich, Supinda S; Burchard, Esteban G EG; Chen, Zhanghua Z; Curjuric, Ivan I; Custovic, Adnan A; den Dekker, Herman T HT; Dharmage, Shyamali C SC; Dmitrieva, Julia J; Duijts, Liesbeth L; Ege, Markus J MJ; Gauderman, W James WJ; Georges, Michel M; Gieger, Christian C; Gilliland, Frank F; Granell, Raquel R; Gui, Hongsheng H; Hansen, Torben T; Heinrich, Joachim J; Henderson, John J; Hernandez-Pacheco, Natalia N; Holt, Patrick P; Imboden, Medea M; Jaddoe, Vincent W V VWV; Jarvelin, Marjo-Riitta MR; Jarvis, Deborah L DL; Jensen, Kamilla K KK; Jónsdóttir, Ingileif I; Kabesch, Michael M; Kaprio, Jaakko J; Kumar, Ashish A; Lee, Young-Ae YA; Levin, Albert M AM; Li, Xingnan X; Lorenzo-Diaz, Fabian F; Melén, Erik E; Mercader, Josep M JM; Meyers, Deborah A DA; Myers, Rachel R; Nicolae, Dan L DL; Nohr, Ellen A EA; Palviainen, Teemu T; Paternoster, Lavinia L; Pennell, Craig E CE; Pershagen, Göran G; Pino-Yanes, Maria M; Probst-Hensch, Nicole M NM; Rüschendorf, Franz F; Simpson, Angela A; Stefansson, Kari K; Sunyer, Jordi J; Sveinbjornsson, Gardar G; Thiering, Elisabeth E; Thompson, Philip J PJ; Torrent, Maties M; Torrents, David D; Tung, Joyce Y JY; Wang, Carol A CA; Weidinger, Stephan S; Weiss, Scott S; Willemsen, Gonneke G; Williams, L Keoki LK; Ober, Carole C; Hinds, David A DA; Ferreira, Manuel A MA; Bisgaard, Hans H; Strachan, David P DP; Bønnelykke, Klaus K
Publication Date: 2018-08

Variant appearance in text: rs2428494
PubMed Link: 30013184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lessons from ten years of genome-wide association studies of asthma.

Clinical & Translational Immunology
Vicente, Cristina T CT; Revez, Joana A JA; Ferreira, Manuel A R MAR
Publication Date: 2017-12

Variant appearance in text: rs2428494
PubMed Link: 29333270
Variant Present in the following documents:
  • Main text
  • cti201754a.pdf
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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs2428494
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-5.pdf
  • NIHMS780506-supplement-6.pdf
View BVdb publication page