SIRPG c.*3-269A>G

Variant ID: 20-1610551-T-C

NM_018556.4(SIRPG):c.*3-269A>G

This variant was identified in 35 publications

View GRCh38 version.




Publications:


SIRPγ-CD47 Interaction Positively Regulates the Activation of Human T Cells in Situation of Chronic Stimulation.

Frontiers In Immunology
Dehmani, Safa S; Nerrière-Daguin, Véronique V; Néel, Mélanie M; Elain-Duret, Nathan N; Heslan, Jean-Marie JM; Belarif, Lyssia L; Mary, Caroline C; Thepenier, Virginie V; Biteau, Kevin K; Poirier, Nicolas N; Blancho, Gilles G; Haspot, Fabienne F
Publication Date: 2021

Variant appearance in text: rs2281808
PubMed Link: 34925315
Variant Present in the following documents:
  • Main text
  • fimmu-12-732530.pdf
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Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Diabetologia
Patel, Kashyap A KA; Ozbek, Mehmet N MN; Yildiz, Melek M; Guran, Tulay T; Kocyigit, Cemil C; Acar, Sezer S; Siklar, Zeynep Z; Atar, Muge M; Colclough, Kevin K; Houghton, Jayne J; Johnson, Matthew B MB; Ellard, Sian S; Flanagan, Sarah E SE; Cizmecioglu, Filiz F; Berberoglu, Merih M; Demir, Korcan K; Catli, Gonul G; Bas, Serpil S; Akcay, Teoman T; Demirbilek, Huseyin H; Weedon, Michael N MN; Hattersley, Andrew T AT
Publication Date: 2022-02

Variant appearance in text: rs2281808
PubMed Link: 34686905
Variant Present in the following documents:
  • 125_2021_5597_MOESM1_ESM.pdf
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The Immunoregulatory Role of the Signal Regulatory Protein Family and CD47 Signaling Pathway in Type 1 Diabetes.

Frontiers In Immunology
Sharp, Robert C RC; Brown, Matthew E ME; Shapiro, Melanie R MR; Posgai, Amanda L AL; Brusko, Todd M TM
Publication Date: 2021

Variant appearance in text: rs2281808
PubMed Link: 34603322
Variant Present in the following documents:
  • Main text
  • fimmu-12-739048.pdf
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs2281808
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs2281808
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Type 1 diabetes: genes associated with disease development.

Central-European Journal Of Immunology
Klak, Marta M; Gomółka, Magdalena M; Kowalska, Patrycja P; Cichoń, Justyna J; Ambrożkiewicz, Filip F; Serwańska-Świętek, Marta M; Berman, Andrzej A; Wszoła, Michał M
Publication Date: 2020

Variant appearance in text: rs2281808
PubMed Link: 33658892
Variant Present in the following documents:
  • Main text
  • CEJI-45-43203.pdf
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De-coding genetic risk variants in type 1 diabetes.

Immunology And Cell Biology
Shapiro, Melanie R MR; Thirawatananond, Puchong P; Peters, Leeana L; Sharp, Robert C RC; Ogundare, Similoluwa S; Posgai, Amanda L AL; Perry, Daniel J DJ; Brusko, Todd M TM
Publication Date: 2021-05

Variant appearance in text: rs2281808
PubMed Link: 33483996
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2281808
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Altered expression of SIRPγ on the T-cells of relapsing remitting multiple sclerosis and type 1 diabetes patients could potentiate effector responses from T-cells.

Plos One
Sinha, Sushmita S; Renavikar, Pranav S PS; Crawford, Michael P MP; Steward-Tharp, Scott M SM; Brate, Ashley A; Tsalikian, Eva E; Tansey, Michael M; Shivapour, Ezzatollah T ET; Cho, Tracey T; Kamholz, John J; Karandikar, Nitin J NJ
Publication Date: 2020

Variant appearance in text: rs2281808
PubMed Link: 32853219
Variant Present in the following documents:
  • Main text
  • pone.0238070.pdf
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Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes.

Diabetologia
Claessens, Laura A LA; Wesselius, Joris J; van Lummel, Menno M; Laban, Sandra S; Mulder, Flip F; Mul, Dick D; Nikolic, Tanja T; Aanstoot, Henk-Jan HJ; Koeleman, Bobby P C BPC; Roep, Bart O BO
Publication Date: 2020-02

Variant appearance in text: rs2281808
PubMed Link: 31754749
Variant Present in the following documents:
  • 125_2019_Article_5032.pdf
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Development and validation of multivariable clinical diagnostic models to identify type 1 diabetes requiring rapid insulin therapy in adults aged 18-50 years.

Bmj Open
Lynam, Anita A; McDonald, Timothy T; Hill, Anita A; Dennis, John J; Oram, Richard R; Pearson, Ewan E; Weedon, Michael M; Hattersley, Andrew A; Owen, Katharine K; Shields, Beverley B; Jones, Angus A
Publication Date: 2019-09-26

Variant appearance in text: rs2281808
PubMed Link: 31558459
Variant Present in the following documents:
  • bmjopen-2019-031586.draft_revisions.pdf
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Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials-GPPAD-02 study design and first results.

Pediatric Diabetes
Winkler, Christiane C; Haupt, Florian F; Heigermoser, Martin M; Zapardiel-Gonzalo, Jose J; Ohli, Jasmin J; Faure, Theresa T; Kalideri, Evdokia E; Hommel, Angela A; Delivani, Petrina P; Berner, Reinhard R; Kordonouri, Olga O; Roloff, Frank F; von dem Berge, Thekla T; Lange, Karin K; Oltarzewski, Mariusz M; Glab, Ryszard R; Szypowska, Agnieszka A; Snape, Matthew D MD; Vatish, Manu M; Todd, John A JA; Larsson, Helena E HE; Ramelius, Anita A; Kördel, Jeanette Å JÅ; Casteels, Kristina K; Paulus, Jasmin J; Ziegler, Anette G AG; Bonifacio, Ezio E; ,
Publication Date: 2019-09

Variant appearance in text: rs2281808
PubMed Link: 31192505
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Contribution to the Divergence in Type 1 Diabetes Risk Between Children From the General Population and Children From Affected Families.

Diabetes
Hippich, Markus M; Beyerlein, Andreas A; Hagopian, William A WA; Krischer, Jeffrey P JP; Vehik, Kendra K; Knoop, Jan J; Winker, Christiane C; Toppari, Jorma J; Lernmark, Åke Å; Rewers, Marian J MJ; Steck, Andrea K AK; She, Jin-Xiong JX; Akolkar, Beena B; Robertson, Catherine C CC; Onengut-Gumuscu, Suna S; Rich, Stephen S SS; Bonifacio, Ezio E; Ziegler, Anette-G AG; , ; ,
Publication Date: 2019-04

Variant appearance in text: rs2281808
PubMed Link: 30655385
Variant Present in the following documents:
  • DB180882SupplementaryData.pdf
View BVdb publication page



Autoimmunity-associated intronic SNP (rs2281808) detected by a simple phenotypic assay: Unique case or broader opportunity?

Clinical Immunology (Orlando, Fla.)
Sinha, Sushmita S; Renavikar, Pranav S PS; Crawford, Michael P MP; Rodgers, Jake W JW; Tsalikian, Eva E; Tansey, Michael M; Karandikar, Nitin J NJ
Publication Date: 2019-01

Variant appearance in text: rs2281808
PubMed Link: 30579937
Variant Present in the following documents:
  • Main text
View BVdb publication page



An autoimmune disease risk SNP, rs2281808, in SIRPG is associated with reduced expression of SIRPγ and heightened effector state in human CD8 T-cells.

Scientific Reports
Sinha, Sushmita S; Borcherding, Nicholas N; Renavikar, Pranav S PS; Crawford, Michael P MP; Tsalikian, Eva E; Tansey, Michael M; Shivapour, Ezzatollah T ET; Bittner, Frank F; Kamholz, John J; Olalde, Heena H; Gibson, Emilee E; Karandikar, Nitin J NJ
Publication Date: 2018-10-18

Variant appearance in text: rs2281808
PubMed Link: 30337675
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_33901.pdf
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Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling.

Scientific Reports
Perry, Daniel J DJ; Wasserfall, Clive H CH; Oram, Richard A RA; Williams, MacKenzie D MD; Posgai, Amanda A; Muir, Andrew B AB; Haller, Michael J MJ; Schatz, Desmond A DA; Wallet, Mark A MA; Mathews, Clayton E CE; Atkinson, Mark A MA; Brusko, Todd M TM
Publication Date: 2018-03-14

Variant appearance in text: rs2281808
PubMed Link: 29540798
Variant Present in the following documents:
  • Main text
  • 41598_2018_22574_MOESM1_ESM.pdf
  • 41598_2018_Article_22574.pdf
View BVdb publication page



Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes.

Frontiers In Endocrinology
Wallet, Mark A MA; Santostefano, Katherine E KE; Terada, Naohiro N; Brusko, Todd M TM
Publication Date: 2017

Variant appearance in text: rs2281808
PubMed Link: 29093700
Variant Present in the following documents:
  • Main text
  • fendo-08-00276.pdf
View BVdb publication page



Distinct Gene Regulatory Pathways for Human Innate versus Adaptive Lymphoid Cells.

Cell
Koues, Olivia I OI; Collins, Patrick L PL; Cella, Marina M; Robinette, Michelle L ML; Porter, Sofia I SI; Pyfrom, Sarah C SC; Payton, Jacqueline E JE; Colonna, Marco M; Oltz, Eugene M EM
Publication Date: 2016-05-19

Variant appearance in text: rs2281808
PubMed Link: 27156452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility.

Journal Of Immunology (Baltimore, Md. : 1950)
Ram, Ramesh R; Mehta, Munish M; Nguyen, Quang T QT; Larma, Irma I; Boehm, Bernhard O BO; Pociot, Flemming F; Concannon, Patrick P; Morahan, Grant G
Publication Date: 2016-04-01

Variant appearance in text: rs2281808
PubMed Link: 26912320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control.

Journal Of Diabetes Research
Brorsson, Caroline A CA; Nielsen, Lotte B LB; Andersen, Marie Louise ML; Kaur, Simranjeet S; Bergholdt, Regine R; Hansen, Lars L; Mortensen, Henrik B HB; Pociot, Flemming F; Størling, Joachim J; ,
Publication Date: 2016

Variant appearance in text: rs2281808
PubMed Link: 26904692
Variant Present in the following documents:
  • Main text
  • JDR2016-9570424.pdf
View BVdb publication page



Non-HLA type 1 diabetes genes modulate disease risk together with HLA-DQ and islet autoantibodies.

Genes And Immunity
Maziarz, M M; Hagopian, W W; Palmer, J P JP; Sanjeevi, C B CB; Kockum, I I; Breslow, N N; Lernmark, Å Å; , ; , ; ,
Publication Date: 2015-12

Variant appearance in text: rs2281808
PubMed Link: 26513234
Variant Present in the following documents:
  • Main text
View BVdb publication page



Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes.

Diabetes Care
Brorsson, Caroline A CA; Pociot, Flemming F; ,
Publication Date: 2015-10

Variant appearance in text: rs2281808
PubMed Link: 26405073
Variant Present in the following documents:
  • Main text
  • dcs152003.pdf
View BVdb publication page



Role of Type 1 Diabetes-Associated SNPs on Risk of Autoantibody Positivity in the TEDDY Study.

Diabetes
Törn, Carina C; Hadley, David D; Lee, Hye-Seung HS; Hagopian, William W; Lernmark, Åke Å; Simell, Olli O; Rewers, Marian M; Ziegler, Anette A; Schatz, Desmond D; Akolkar, Beena B; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Toppari, Jorma J; Mykkänen, Juha J; Ilonen, Jorma J; Rich, Stephen S SS; She, Jin-Xiong JX; Steck, Andrea K AK; Krischer, Jeffrey J; ,
Publication Date: 2015-05

Variant appearance in text: rs2281808
PubMed Link: 25422107
Variant Present in the following documents:
  • Main text
  • db141497.pdf
View BVdb publication page



Improving prediction of type 1 diabetes by testing non-HLA genetic variants in addition to HLA markers.

Pediatric Diabetes
Steck, Andrea K AK; Dong, Fran F; Wong, Randall R; Fouts, Alexandra A; Liu, Edwin E; Romanos, Jihane J; Wijmenga, Cisca C; Norris, Jill M JM; Rewers, Marian J MJ
Publication Date: 2014-08

Variant appearance in text: rs2281808
PubMed Link: 25075402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs2281808
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
View BVdb publication page



Sex-specific differences in effect size estimates at established complex trait loci.

International Journal Of Epidemiology
Orozco, Gisela G; Ioannidis, John P A JP; Morris, Andrew A; Zeggini, Eleftheria E; ,
Publication Date: 2012-10

Variant appearance in text: rs2281808
PubMed Link: 22825589
Variant Present in the following documents:
  • Main text
  • dys104.pdf
View BVdb publication page



Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR,DQ genotypes.

Diabetes
Steck, Andrea K AK; Wong, Randall R; Wagner, Brandie B; Johnson, Kelly K; Liu, Edwin E; Romanos, Jihane J; Wijmenga, Cisca C; Norris, Jill M JM; Eisenbarth, George S GS; Rewers, Marian J MJ
Publication Date: 2012-03

Variant appearance in text: rs2281808
PubMed Link: 22315323
Variant Present in the following documents:
  • Main text
View BVdb publication page



Confirmation of novel type 1 diabetes risk loci in families.

Diabetologia
Cooper, J D JD; Howson, J M M JM; Smyth, D D; Walker, N M NM; Stevens, H H; Yang, J H M JH; She, J-X JX; Eisenbarth, G S GS; Rewers, M M; Todd, J A JA; Akolkar, B B; Concannon, P P; Erlich, H A HA; Julier, C C; Morahan, G G; Nerup, J J; Nierras, C C; Pociot, F F; Rich, S S SS; ,
Publication Date: 2012-04

Variant appearance in text: rs2281808
PubMed Link: 22278338
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

Plos Genetics
Bradfield, Jonathan P JP; Qu, Hui-Qi HQ; Wang, Kai K; Zhang, Haitao H; Sleiman, Patrick M PM; Kim, Cecilia E CE; Mentch, Frank D FD; Qiu, Haijun H; Glessner, Joseph T JT; Thomas, Kelly A KA; Frackelton, Edward C EC; Chiavacci, Rosetta M RM; Imielinski, Marcin M; Monos, Dimitri S DS; Pandey, Rahul R; Bakay, Marina M; Grant, Struan F A SF; Polychronakos, Constantin C; Hakonarson, Hakon H
Publication Date: 2011-09

Variant appearance in text: rs2281808
PubMed Link: 21980299
Variant Present in the following documents:
  • Main text
  • pgen.1002293.pdf
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Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population.

Genes And Immunity
Reddy, M V Prasad Linga MV; Wang, H H; Liu, S S; Bode, B B; Reed, J C JC; Steed, R D RD; Anderson, S W SW; Steed, L L; Hopkins, D D; She, J-X JX
Publication Date: 2011-04

Variant appearance in text: rs2281808
PubMed Link: 21270831
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs.

Diabetes
Morahan, Grant G; Mehta, Munish M; James, Ian I; Chen, Wei-Min WM; Akolkar, Beena B; Erlich, Henry A HA; Hilner, Joan E JE; Julier, Cécile C; Nerup, Jørn J; Nierras, Concepcion C; Pociot, Flemming F; Todd, John A JA; Rich, Stephen S SS; ,
Publication Date: 2011-03

Variant appearance in text: rs2281808
PubMed Link: 21266329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies.

Expert Opinion On Medical Diagnostics
Carey, Colleen C; Purohit, Sharad S; She, Jin-Xiong JX
Publication Date: 2010-09-01

Variant appearance in text: rs2281808
PubMed Link: 20885991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthetic associations in the context of genome-wide association scan signals.

Human Molecular Genetics
Orozco, Gisela G; Barrett, Jeffrey C JC; Zeggini, Eleftheria E
Publication Date: 2010-10-15

Variant appearance in text: rs2281808
PubMed Link: 20805105
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of type 1 diabetes: what's next?

Diabetes
Pociot, Flemming F; Akolkar, Beena B; Concannon, Patrick P; Erlich, Henry A HA; Julier, Cécile C; Morahan, Grant G; Nierras, Concepcion R CR; Todd, John A JA; Rich, Stephen S SS; Nerup, Jørn J
Publication Date: 2010-07

Variant appearance in text: rs2281808
PubMed Link: 20587799
Variant Present in the following documents:
  • Main text
  • zdb1561.pdf
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Prediction and interaction in complex disease genetics: experience in type 1 diabetes.

Plos Genetics
Clayton, David G DG
Publication Date: 2009-07

Variant appearance in text: rs2281808
PubMed Link: 19584936
Variant Present in the following documents:
  • pgen.1000540.s001.pdf
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Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

Nature Genetics
Barrett, Jeffrey C JC; Clayton, David G DG; Concannon, Patrick P; Akolkar, Beena B; Cooper, Jason D JD; Erlich, Henry A HA; Julier, Cécile C; Morahan, Grant G; Nerup, Jørn J; Nierras, Concepcion C; Plagnol, Vincent V; Pociot, Flemming F; Schuilenburg, Helen H; Smyth, Deborah J DJ; Stevens, Helen H; Todd, John A JA; Walker, Neil M NM; Rich, Stephen S SS; ,
Publication Date: 2009-06

Variant appearance in text: rs2281808
PubMed Link: 19430480
Variant Present in the following documents:
  • Main text
View BVdb publication page