Publications:

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Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.

Nature Communications

Han, Younghun Y; Byun, Jinyoung J; Zhu, Catherine C; Sun, Ryan R; Roh, Julia Y JY; Cordell, Heather J HJ; Lee, Hyun-Sung HS; Shaw, Vikram R VR; Kang, Sung Wook SW; Razjouyan, Javad J; Cooley, Matthew A MA; Hassan, Manal M MM; Siminovitch, Katherine A KA; Folseraas, Trine T; Ellinghaus, David D; Bergquist, Annika A; Rushbrook, Simon M SM; Franke, Andre A; Karlsen, Tom H TH; Lazaridis, Konstantinos N KN; , ; McGlynn, Katherine A KA; Roberts, Lewis R LR; Amos, Christopher I CI

Publication Date: 2023-02-24

Variant appearance in text: rs4151657

PubMed Link: 36828809

Variant Present in the following documents:

• 41467_2023_36678_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Association Between Atopic Dermatitis and Major Cardiovascular Outcomes: a Two-Sample Mendelian Randomization Study.

Dermatology Practical & Conceptual

Qi, Hongjiao H; Wang, Lifeng L; Li, Linfeng L

Publication Date: 2022-11

Variant appearance in text: rs4151657

PubMed Link: 36534570

Variant Present in the following documents:

• Main text
• dp1204a165.pdf

View BVdb publication page

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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: rs4151657

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Functional variant rs12614 in CFB confers a low risk of IgA nephropathy by attenuating complement alternative pathway activation in Han Chinese.

Frontiers In Immunology

Shi, Dian-Chun DC; Feng, Shao-Zhen SZ; Zhong, Zhong Z; Cai, Lu L; Wang, Meng M; Fu, Dong-Ying DY; Yu, Xue-Qing XQ; Li, Ming M

Publication Date: 2022

Variant appearance in text: rs4151657

PubMed Link: 36311737

Variant Present in the following documents:

• Main text
• fimmu-13-973169.pdf
• DataSheet_1.pdf

View BVdb publication page

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Biomarkers as Predictive Factors of Anti-VEGF Response.

Biomedicines

Bobadilla, Miriam M; Pariente, Ana A; Oca, Ana I AI; Peláez, Rafael R; Pérez-Sala, Álvaro Á; Larráyoz, Ignacio M IM

Publication Date: 2022-04-26

Variant appearance in text: rs4151657

PubMed Link: 35625740

Variant Present in the following documents:

• biomedicines-10-01003.pdf

View BVdb publication page

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Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models.

Genes

Burnard, Sean M SM; Lea, Rodney A RA; Benton, Miles M; Eccles, David D; Kennedy, Daniel W DW; Lechner-Scott, Jeannette J; Scott, Rodney J RJ

Publication Date: 2021-12-29

Variant appearance in text: rs4151657

PubMed Link: 35052430

Variant Present in the following documents:

• Main text

View BVdb publication page

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Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models.

Genes

Burnard, Sean M SM; Lea, Rodney A RA; Benton, Miles M; Eccles, David D; Kennedy, Daniel W DW; Lechner-Scott, Jeannette J; Scott, Rodney J RJ

Publication Date: 2021-12-29

Variant appearance in text: rs4151657

PubMed Link: 35052430

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide association study of the frailty index highlights brain pathways in ageing.

Aging Cell

Atkins, Janice L JL; Jylhävä, Juulia J; Pedersen, Nancy L NL; Magnusson, Patrik K PK; Lu, Yi Y; Wang, Yunzhang Y; Hägg, Sara S; Melzer, David D; Williams, Dylan M DM; Pilling, Luke C LC

Publication Date: 2021-09

Variant appearance in text: rs4151657

PubMed Link: 34431594

Variant Present in the following documents:

• Main text
• ACEL-20-e13459.pdf

View BVdb publication page

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Association of Immune and Inflammatory Gene Polymorphism With the Risk of IgA Nephropathy: A Systematic Review and Meta-Analysis of 45 Studies.

Frontiers In Immunology

Ding, Xiaonan X; Mei, Yan Y; Mao, Zhi Z; Long, Lingling L; Han, Qiuxia Q; You, Yanqin Y; Zhu, Hanyu H

Publication Date: 2021

Variant appearance in text: rs4151657

PubMed Link: 34354705

Variant Present in the following documents:

• Main text
• fimmu-12-683913.pdf

View BVdb publication page

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CFH I62V as a Putative Genetic Marker for Posner-Schlossman Syndrome.

Frontiers In Immunology

Yang, Ming Ming MM; Sun, Hong Yan HY; Meng, Ting T; Qiu, Shan Hu SH; Zeng, Qi Qiao QQ; Ng, Tsz Kin TK; Jiang, Li L; Deng, Ting Ming TM; Zeng, Ai Neng AN; Wang, Jun J; Luo, Xiao Ling XL

Publication Date: 2021

Variant appearance in text: rs4151657

PubMed Link: 33643312

Variant Present in the following documents:

• Main text
• fimmu-12-608723.pdf

View BVdb publication page

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Exome Chip Analyses and Genetic Risk for IgA Nephropathy among Han Chinese.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Zhou, Xu-Jie XJ; Tsoi, Lam C LC; Hu, Yong Y; Patrick, Matthew T MT; He, Kevin K; Berthier, Celine C CC; Li, Yanming Y; Wang, Yan-Na YN; Qi, Yuan-Yuan YY; Zhang, Yue-Miao YM; Gan, Ting T; Li, Yang Y; Hou, Ping P; Liu, Li-Jun LJ; Shi, Su-Fang SF; Lv, Ji-Cheng JC; Xu, Hu-Ji HJ; Zhang, Hong H

Publication Date: 2021-02-08

Variant appearance in text: rs4151657

PubMed Link: 33462083

Variant Present in the following documents:

• Main text

View BVdb publication page

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A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.

Bmc Medical Genetics

Seo, Jung Yeon JY; Shin, Joong-Gon JG; Youn, Byeong Ju BJ; Namgoong, Suhg S; Cheong, Hyun Sub HS; Kim, Lyoung Hyo LH; Kim, Ji On JO; Shin, Hyoung Doo HD; Kim, Yoon Jun YJ

Publication Date: 2020-12-17

Variant appearance in text: rs4151657

PubMed Link: 33334325

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1177.pdf

View BVdb publication page

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Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

Cells

Park, Sung Chul SC; Jeen, Yoon Tae YT

Publication Date: 2019-05-01

Variant appearance in text: rs4151657

PubMed Link: 31052430

Variant Present in the following documents:

• Main text
• cells-08-00404.pdf

View BVdb publication page

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Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33.

Human Genetics

Musolf, Anthony M AM; Simpson, Claire L CL; Alexander, Theresa A TA; Portas, Laura L; Murgia, Federico F; Ciner, Elise B EB; Stambolian, Dwight D; Bailey-Wilson, Joan E JE

Publication Date: 2019-04

Variant appearance in text: rs4151657

PubMed Link: 30826882

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs4151657

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

View BVdb publication page

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Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine

Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN

Publication Date: 2016-12-13

Variant appearance in text: rs4151657

PubMed Link: 27964746

Variant Present in the following documents:

• 13073_2016_383_MOESM1_ESM.pdf

View BVdb publication page

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A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.

European Journal Of Human Genetics : Ejhg

Gupta, Aditi A; Juyal, Garima G; Sood, Ajit A; Midha, Vandana V; Yamazaki, Keiko K; Vich Vila, Arnau A; Esaki, Motohiro M; Matsui, Toshiyuki T; Takahashi, Atsushi A; Kubo, Michiaki M; Weersma, Rinse K RK; Thelma, B K BK

Publication Date: 2016-01

Variant appearance in text: rs4151657

PubMed Link: 27759029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk factors and biomarkers of age-related macular degeneration.

Progress In Retinal And Eye Research

Lambert, Nathan G NG; ElShelmani, Hanan H; Singh, Malkit K MK; Mansergh, Fiona C FC; Wride, Michael A MA; Padilla, Maximilian M; Keegan, David D; Hogg, Ruth E RE; Ambati, Balamurali K BK

Publication Date: 2016-09

Variant appearance in text: rs4151657

PubMed Link: 27156982

Variant Present in the following documents:

• Main text

View BVdb publication page

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Update on genetics and diabetic retinopathy.

Clinical Ophthalmology (Auckland, N.Z.)

Hampton, Blake M BM; Schwartz, Stephen G SG; Brantley, Milam A MA; Flynn, Harry W HW

Publication Date: 2015

Variant appearance in text: rs4151657

PubMed Link: 26648684

Variant Present in the following documents:

• Main text
• opth-9-2175.pdf

View BVdb publication page

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Genetic association of impulsivity in young adults: a multivariate study.

Translational Psychiatry

Khadka, S S; Narayanan, B B; Meda, S A SA; Gelernter, J J; Han, S S; Sawyer, B B; Aslanzadeh, F F; Stevens, M C MC; Hawkins, K A KA; Anticevic, A A; Potenza, M N MN; Pearlson, G D GD

Publication Date: 2014-09-30

Variant appearance in text: rs4151657

PubMed Link: 25268255

Variant Present in the following documents:

• Main text
• tp201495a.pdf

View BVdb publication page

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GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity

Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO

Publication Date: 2014-09

Variant appearance in text: rs4151657

PubMed Link: 24871463

Variant Present in the following documents:

• NIHMS583203-supplement-1.pdf

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs4151657

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3

View BVdb publication page

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Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients.

Mediators Of Inflammation

Wang, Jun J; Yang, Ming Ming MM; Li, Yan Bo YB; Liu, Guo Dong GD; Teng, Yan Y; Liu, Xiao Min XM

Publication Date: 2013

Variant appearance in text: rs4151657

PubMed Link: 23864767

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNA sequence variants in PPARGC1A, a gene encoding a coactivator of the ω-3 LCPUFA sensing PPAR-RXR transcription complex, are associated with NV AMD and AMD-associated loci in genes of complement and VEGF signaling pathways.

Plos One

SanGiovanni, John Paul JP; Chen, Jing J; Sapieha, Przemyslaw P; Aderman, Christopher M CM; Stahl, Andreas A; Clemons, Traci E TE; Chew, Emily Y EY; Smith, Lois E H LE

Publication Date: 2013

Variant appearance in text: rs4151657

PubMed Link: 23335958

Variant Present in the following documents:

• Main text
• pone.0053155.pdf

View BVdb publication page

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The major histocompatibility complex conserved extended haplotype 8.1 in AIDS-related non-Hodgkin lymphoma.

Journal Of Acquired Immune Deficiency Syndromes (1999)

Aissani, Brahim B; Ogwaro, Kisani M KM; Shrestha, Sadeep S; Tang, Jianming J; Breen, Elizabeth C EC; Wong, Hui-Lee HL; Jacobson, Lisa P LP; Rabkin, Charles S CS; Ambinder, Richard F RF; Martinez-Maza, Otoniel O; Kaslow, Richard A RA

Publication Date: 2009-10-01

Variant appearance in text: rs4151657

PubMed Link: 19654554

Variant Present in the following documents:

• Main text

View BVdb publication page

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C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

Plos One

Jakobsdottir, Johanna J; Conley, Yvette P YP; Weeks, Daniel E DE; Ferrell, Robert E RE; Gorin, Michael B MB

Publication Date: 2008-05-21

Variant appearance in text: rs4151657

PubMed Link: 18493315

Variant Present in the following documents:

• pone.0002199.s005.pdf

View BVdb publication page

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