Publications:

---

The Potential of Single Nucleotide Polymorphisms (SNPs) as Biomarkers and Their Association with the Increased Risk of Coronary Heart Disease: A Systematic Review.

Vascular Health And Risk Management

Sitinjak, Bernap Dwi Putra BDP; Murdaya, Niky N; Rachman, Tiara Anisya TA; Zakiyah, Neily N; Barliana, Melisa Intan MI

Publication Date: 2023

Variant appearance in text: rs2274567

PubMed Link: 37179817

Variant Present in the following documents:

• Main text
• vhrm-19-289.pdf

View BVdb publication page

---

Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: CR1: H1658R

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

---

Population-specific positive selection on low CR1 expression in malaria-endemic regions.

Plos One

Lorenzini, Paolo Alberto PA; Gusareva, Elena S ES; Ghosh, Amit Gourav AG; Ramli, Nurul Adilah Binte NAB; Preiser, Peter Rainer PR; Kim, Hie Lim HL

Publication Date: 2023

Variant appearance in text: rs2274567

PubMed Link: 36626386

Variant Present in the following documents:

• Main text
• pone.0280282.pdf

View BVdb publication page

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CR1: H1658R; rs2274567

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

---

Genetic Variation among Pharmacogenes in the Sardinian Population.

International Journal Of Molecular Sciences

Idda, Maria Laura ML; Zoledziewska, Magdalena M; Urru, Silvana Anna Maria SAM; McInnes, Gregory G; Bilotta, Alice A; Nuvoli, Viola V; Lodde, Valeria V; Orrù, Sandro S; Schlessinger, David D; Cucca, Francesco F; Floris, Matteo M

Publication Date: 2022-09-02

Variant appearance in text: rs2274567

PubMed Link: 36077453

Variant Present in the following documents:

• ijms-23-10058.pdf

View BVdb publication page

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: CR1: H1658R; rs2274567

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: CR1: H1658R; rs2274567

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

---

The genomic landscape of blood groups in Indigenous Australians in remote communities.

Transfusion

Jadhao, Sudhir S; Hoy, Wendy W; Lee, Simon S; Patel, Hardip R HR; McMorran, Brendan J BJ; Flower, Robert L RL; Nagaraj, Shivashankar H SH

Publication Date: 2022-05

Variant appearance in text: CR1: 4973A>G; H1658R; rs2274567

PubMed Link: 35403234

Variant Present in the following documents:

• TRF-62-1110-s001.xlsx, sheet 6

View BVdb publication page

---

Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.

Journal Of Alzheimer'S Disease : Jad

Dong, Liling L; Mao, Chenhui C; Liu, Caiyan C; Li, Jie J; Huang, Xinying X; Wang, Jie J; Lei, Dan D; Chu, Shanshan S; Sha, Longze L; Xu, Qi Q; Peng, Bin B; Cui, Liying L; Gao, Jing J

Publication Date: 2022

Variant appearance in text: rs2274567

PubMed Link: 34958020

Variant Present in the following documents:

• Main text
• jad-85-jad215067.pdf
• jad-85-jad215067-s001.pdf

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: CR1: 4973A>G; H1658R; rs2274567

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Human Molecular Genetics

Qin, Wei W; Zhou, Aihong A; Zuo, Xiumei X; Jia, Longfei L; Li, Fangyu F; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Jin, Hongmei H; Cruchaga, Carlos C; Benitez, Bruno A BA; Jia, Jianping J

Publication Date: 2021-05-28

Variant appearance in text: CR1: 4973A>G; H1658R; rs2274567

PubMed Link: 33835157

Variant Present in the following documents:

• supplementary_tables_ddab090.xlsx, sheet 1

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: CR1: H1658R; rs2274567

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

"Complimenting the Complement": Mechanistic Insights and Opportunities for Therapeutics in Hepatocellular Carcinoma.

Frontiers In Oncology

Malik, Astha A; Thanekar, Unmesha U; Amarachintha, Surya S; Mourya, Reena R; Nalluri, Shreya S; Bondoc, Alexander A; Shivakumar, Pranavkumar P

Publication Date: 2020

Variant appearance in text: rs2274567

PubMed Link: 33718121

Variant Present in the following documents:

• Main text
• fonc-10-627701.pdf

View BVdb publication page

---

Hepatitis B Virus Infection Among Leprosy Patients: A Case for Polymorphisms Compromising Activation of the Lectin Pathway and Complement Receptors.

Frontiers In Immunology

Boldt, Angelica Beate Winter ABW; Oliveira-Toré, Camila de Freitas CF; Kretzschmar, Gabriela Canalli GC; Weinschutz Mendes, Hellen H; Stinghen, Sérvio Túlio ST; Andrade, Fabiana Antunes FA; Bumiller-Bini, Valéria V; Gonçalves, Letícia Boslooper LB; Braga, Anna Carolina de Moraes ACM; Stahlke, Ewalda von Rosen Seeling EVRS; Velavan, Thirumalaisamy P TP; Thiel, Steffen S; de Messias-Reason, Iara José Taborda IJT

Publication Date: 2020

Variant appearance in text: rs2274567

PubMed Link: 33643280

Variant Present in the following documents:

• Main text
• fimmu-11-574457.pdf

View BVdb publication page

---

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: CR1: 4973A>G; H1658R; rs2274567

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: CR1: H1658R; rs2274567

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports

Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C

Publication Date: 2020-04-28

Variant appearance in text: rs2274567

PubMed Link: 32345996

Variant Present in the following documents:

• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Senanarong, Vorapun V; An, Seong Soo A SSA; Vo Van, Giau G; Limwongse, Chanin C; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2020-03-01

Variant appearance in text: CR1: 4973A>G; H1658R; rs2274567

PubMed Link: 32121568

Variant Present in the following documents:

• diagnostics-10-00135-s001.pdf

View BVdb publication page

---

YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: CR1: H1658R

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Complement Receptor 1 (CR1, CD35) Polymorphisms and Soluble CR1: A Proposed Anti-inflammatory Role to Quench the Fire of "Fogo Selvagem" Pemphigus Foliaceus.

Frontiers In Immunology

Oliveira, Luana Caroline LC; Kretzschmar, Gabriela Canalli GC; Dos Santos, Andressa Cristina Moraes ACM; Camargo, Carolina Maciel CM; Nisihara, Renato Mitsunori RM; Farias, Ticiana Della Justina TDJ; Franke, Andre A; Wittig, Michael M; Schmidt, Enno E; Busch, Hauke H; Petzl-Erler, Maria Luiza ML; Boldt, Angelica Beate Winter ABW

Publication Date: 2019

Variant appearance in text: rs2274567

PubMed Link: 31824479

Variant Present in the following documents:

• Main text
• fimmu-10-02585.pdf

View BVdb publication page

---

Complement Receptor 1 availability on red blood cell surface modulates Plasmodium vivax invasion of human reticulocytes.

Scientific Reports

Prajapati, Surendra Kumar SK; Borlon, Céline C; Rovira-Vallbona, Eduard E; Gruszczyk, Jakub J; Menant, Sebastien S; Tham, Wai-Hong WH; Kattenberg, Johanna Helena JH; Villasis, Elizabeth E; De Meulenaere, Katlijn K; Gamboa, Dionicia D; Vinetz, Joseph J; Fujita, Ricardo R; Xuan, Xa Nguyen XN; Urbano Ferreira, Marcelo M; Niño, Carlos H CH; Patarroyo, Manuel A MA; Spanakos, Gregory G; Kestens, Luc L; Abbeele, Jan Van Den JVD; Rosanas-Urgell, Anna A

Publication Date: 2019-06-20

Variant appearance in text: rs2274567

PubMed Link: 31221984

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: CR1: 4973A>G; rs2274567

PubMed Link: 31182772

Variant Present in the following documents:

• 41598_2019_44848_MOESM1_ESM.pdf

View BVdb publication page

---

Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: CR1: H1658R; rs2274567

PubMed Link: 30917570

Variant Present in the following documents:

• ijms-20-01514-s001.pdf

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2274567

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

---

Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: CR1: H1658R

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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: CR1: 4973A>G; His1658Arg; rs2274567

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

---

Complement receptor 1 (CR1, CD35) association with susceptibility to leprosy.

Plos Neglected Tropical Diseases

Kretzschmar, Gabriela Canalli GC; Oliveira, Luana Caroline LC; Nisihara, Renato Mitsunori RM; Velavan, Thirumalaisamy P TP; Stinghen, Sérvio Túlio ST; Stahlke, Ewalda R S ERS; Petzl-Erler, Maria Luiza ML; Messias-Reason, Iara José T de IJT; Boldt, Angelica Beate Winter ABW

Publication Date: 2018-08

Variant appearance in text: rs2274567

PubMed Link: 30092084

Variant Present in the following documents:

• Main text
• pntd.0006705.pdf

View BVdb publication page

---

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs2274567

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

---

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research

Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP

Publication Date: 2018-04

Variant appearance in text: CR1: H1658R; rs2274567

PubMed Link: 29567674

Variant Present in the following documents:

• supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2274567

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology

Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A

Publication Date: 2017-06-14

Variant appearance in text: rs2274567

PubMed Link: 28652652

Variant Present in the following documents:

• Main text
• WJG-23-3978.pdf

View BVdb publication page

---

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Nature Communications

Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW

Publication Date: 2017-01-18

Variant appearance in text: CR1: H1658R

PubMed Link: 28098136

Variant Present in the following documents:

• ncomms14121-s9.xlsx, sheet 1

View BVdb publication page

---

Complement receptor 1 gene polymorphisms are associated with cardiovascular risk.

Atherosclerosis

de Vries, Marijke A MA; Trompet, Stella S; Mooijaart, Simon P SP; Smit, Roelof A J RA; Böhringer, Stefan S; Castro Cabezas, Manuel M; Jukema, J Wouter JW

Publication Date: 2017-02

Variant appearance in text: rs2274567

PubMed Link: 28033544

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

CR1 exon variants are associated with lowered CR1 expression and increased susceptibility to SLE in a Plasmodium falciparum endemic population.

Lupus Science & Medicine

Panda, Aditya K AK; Ravindran, Balachandran B; Das, Bidyut K BK

Publication Date: 2016

Variant appearance in text: rs2274567

PubMed Link: 27933195

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Complement gene variants in relation to autoantibodies to beta cell specific antigens and type 1 diabetes in the TEDDY Study.

Scientific Reports

Törn, Carina C; Liu, Xiang X; Hagopian, William W; Lernmark, Åke Å; Simell, Olli O; Rewers, Marian M; Ziegler, Anette-G AG; 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; Sharma, Ashok A; Steck, Andrea A; Krischer, Jeffrey J; ,

Publication Date: 2016-06-16

Variant appearance in text: rs2274567

PubMed Link: 27306948

Variant Present in the following documents:

• Main text
• srep27887.pdf

View BVdb publication page

---

PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: CR1: H1658R

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2274567

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing data.

Genes, Brain, And Behavior

Saad, M M; Brkanac, Z Z; Wijsman, E M EM

Publication Date: 2015-11

Variant appearance in text: rs2274567

PubMed Link: 26394601

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: CR1: H1658R; rs2274567

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs2274567

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1
• srep09124-s2.xls, sheet 1

View BVdb publication page

---

Association of the single-nucleotide polymorphism and haplotype of the complement receptor 1 gene with malaria.

Yonsei Medical Journal

Lan, Yan Y; Wei, Chuan-Dong CD; Chen, Wen-Cheng WC; Wang, Jun-Li JL; Wang, Chun-Fang CF; Pan, Guo-Gang GG; Wei, Ye-Sheng YS; Nong, Le-Gen LG

Publication Date: 2015-03

Variant appearance in text: rs2274567

PubMed Link: 25683978

Variant Present in the following documents:

• Main text
• ymj-56-332.pdf

View BVdb publication page

---

New insights into the genetics of glioblastoma multiforme by familial exome sequencing.

Oncotarget

Backes, Christina C; Harz, Christian C; Fischer, Ulrike U; Schmitt, Jana J; Ludwig, Nicole N; Petersen, Britt-Sabina BS; Mueller, Sabine C SC; Kim, Yoo-Jin YJ; Wolf, Nadine M NM; Katus, Hugo A HA; Meder, Benjamin B; Furtwängler, Rhoikos R; Franke, Andre A; Bohle, Rainer R; Henn, Wolfram W; Graf, Norbert N; Keller, Andreas A; Meese, Eckart E

Publication Date: 2015-03-20

Variant appearance in text: rs2274567

PubMed Link: 25537509

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CR1: H1658R; rs2274567

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.

Acta Neuropathologica

Nelson, Peter T PT; Estus, Steven S; Abner, Erin L EL; Parikh, Ishita I; Malik, Manasi M; Neltner, Janna H JH; Ighodaro, Eseosa E; Wang, Wang-Xia WX; Wilfred, Bernard R BR; Wang, Li-San LS; Kukull, Walter A WA; Nandakumar, Kannabiran K; Farman, Mark L ML; Poon, Wayne W WW; Corrada, Maria M MM; Kawas, Claudia H CH; Cribbs, David H DH; Bennett, David A DA; Schneider, Julie A JA; Larson, Eric B EB; Crane, Paul K PK; Valladares, Otto O; Schmitt, Frederick A FA; Kryscio, Richard J RJ; Jicha, Gregory A GA; Smith, Charles D CD; Scheff, Stephen W SW; Sonnen, Joshua A JA; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Mayeux, Richard R; Farrer, Lindsay A LA; Van Eldik, Linda J LJ; Horbinski, Craig C; Green, Robert C RC; Gearing, Marla M; Poon, Leonard W LW; Kramer, Patricia L PL; Woltjer, Randall L RL; Montine, Thomas J TJ; Partch, Amanda B AB; Rajic, Alexander J AJ; Richmire, KatieRose K; Monsell, Sarah E SE; , ; Schellenberg, Gerard D GD; Fardo, David W DW

Publication Date: 2014

Variant appearance in text: rs2274567

PubMed Link: 24770881

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth.

Human Genetics

McElroy, Jude J JJ; Gutman, Courtney E CE; Shaffer, Christian M CM; Busch, Tamara D TD; Puttonen, Hilkka H; Teramo, Kari K; Murray, Jeffrey C JC; Hallman, Mikko M; Muglia, Louis J LJ

Publication Date: 2013-08

Variant appearance in text: rs2274567

PubMed Link: 23591632

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Complement receptor 1 variants confer protection from severe malaria in Odisha, India.

Plos One

Panda, Aditya K AK; Panda, Madhumita M; Tripathy, Rina R; Pattanaik, Sarit S SS; Ravindran, Balachandran B; Das, Bidyut K BK

Publication Date: 2012

Variant appearance in text: rs2274567

PubMed Link: 23152904

Variant Present in the following documents:

• Main text
• pone.0049420.pdf

View BVdb publication page

---

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

Plos Genetics

Naitza, Silvia S; Porcu, Eleonora E; Steri, Maristella M; Taub, Dennis D DD; Mulas, Antonella A; Xiao, Xiang X; Strait, James J; Dei, Mariano M; Lai, Sandra S; Busonero, Fabio F; Maschio, Andrea A; Usala, Gianluca G; Zoledziewska, Magdalena M; Sidore, Carlo C; Zara, Ilenia I; Pitzalis, Maristella M; Loi, Alessia A; Virdis, Francesca F; Piras, Roberta R; Deidda, Francesca F; Whalen, Michael B MB; Crisponi, Laura L; Concas, Antonio A; Podda, Carlo C; Uzzau, Sergio S; Scheet, Paul P; Longo, Dan L DL; Lakatta, Edward E; Abecasis, Gonçalo R GR; Cao, Antonio A; Schlessinger, David D; Uda, Manuela M; Sanna, Serena S; Cucca, Francesco F

Publication Date: 2012-01

Variant appearance in text: rs2274567

PubMed Link: 22291609

Variant Present in the following documents:

• Main text
• pgen.1002480.pdf

View BVdb publication page

---

Allelic variants of complement genes associated with dense deposit disease.

Journal Of The American Society Of Nephrology : Jasn

Abrera-Abeleda, Maria Asuncion MA; Nishimura, Carla C; Frees, Kathy K; Jones, Michael M; Maga, Tara T; Katz, Louis M LM; Zhang, Yuzhou Y; Smith, Richard J H RJ

Publication Date: 2011-08

Variant appearance in text: rs2274567

PubMed Link: 21784901

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research

Srivastava, Kshitij K; Srivastava, Anvesha A; Sharma, Kiran Lata KL; Mittal, Balraj B

Publication Date: 2011

Variant appearance in text: rs2274567

PubMed Link: 21708280

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.

American Journal Of Human Genetics

Kullo, Iftikhar J IJ; Ding, Keyue K; Shameer, Khader K; McCarty, Catherine A CA; Jarvik, Gail P GP; Denny, Joshua C JC; Ritchie, Marylyn D MD; Ye, Zi Z; Crosslin, David R DR; Chisholm, Rex L RL; Manolio, Teri A TA; Chute, Christopher G CG

Publication Date: 2011-07-15

Variant appearance in text: rs2274567

PubMed Link: 21700265

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease.

Plos One

Kauwe, John S K JS; Cruchaga, Carlos C; Karch, Celeste M CM; Sadler, Brooke B; Lee, Mo M; Mayo, Kevin K; Latu, Wayne W; Su'a, Manti M; Fagan, Anne M AM; Holtzman, David M DM; Morris, John C JC; , ; Goate, Alison M AM

Publication Date: 2011-02-09

Variant appearance in text: rs2274567

PubMed Link: 21347408

Variant Present in the following documents:

• Main text
• pone.0015918.pdf

View BVdb publication page

---