ABO c.927G>A ;(p.L309L)

Variant ID: 9-136131188-C-T

NM_020469.3(ABO):c.927G>A;(p.L309L)

This variant was identified in 48 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs8176749
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



ABO blood group antigens and differential glycan expression: Perspective on the evolution of common human enzyme deficiencies.

Iscience
Jajosky, Ryan Philip RP; Wu, Shang-Chuen SC; Zheng, Leon L; Jajosky, Audrey N AN; Jajosky, Philip G PG; Josephson, Cassandra D CD; Hollenhorst, Marie A MA; Sackstein, Robert R; Cummings, Richard D RD; Arthur, Connie M CM; Stowell, Sean R SR
Publication Date: 2023-01-20

Variant appearance in text: rs8176749
PubMed Link: 36691627
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data.

Bmc Genomics
Forgacova, Natalia N; Holesova, Zuzana Z; Hekel, Rastislav R; Sedlackova, Tatiana T; Pos, Zuzana Z; Krivosikova, Lucia L; Janega, Pavol P; Kuracinova, Kristina Mikus KM; Babal, Pavel P; Radvak, Peter P; Radvanszky, Jan J; Gazdarica, Juraj J; Budis, Jaroslav J; Szemes, Tomas T
Publication Date: 2023-01-10

Variant appearance in text: rs8176749
PubMed Link: 36627554
Variant Present in the following documents:
  • Main text
  • 12864_2022_Article_9084.pdf
View BVdb publication page



ABO Blood Groups in Systemic Sclerosis: Distribution and Association with This Disease's Characteristics.

Journal Of Clinical Medicine
Collet, Aurore A; Zawadzki, Christophe C; Jeanpierre, Emmanuelle E; Kitel, Caroline C; Dubucquoi, Sylvain S; Hachulla, Eric E; Susen, Sophie S; Launay, David D
Publication Date: 2022-12-24

Variant appearance in text: rs8176749
PubMed Link: 36614946
Variant Present in the following documents:
  • jcm-12-00148.pdf
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Discovery of genomic loci associated with sleep apnoea risk through multi-trait GWAS analysis with snoring.

Sleep
Campos, Adrian I AI; Ingold, Nathan N; Huang, Yunru Y; Mitchell, Brittany L BL; Kho, Pik-Fang PF; Han, Xikun X; García-Marín, Luis M LM; Ong, Jue-Sheng JS; , ; Law, Matthew H MH; Yokoyama, Jennifer S JS; Martin, Nicholas G NG; Dong, Xianjun X; Cuellar-Partida, Gabriel G; MacGregor, Stuart S; Aslibekyan, Stella S; Rentería, Miguel E ME
Publication Date: 2022-12-16

Variant appearance in text: rs8176749
PubMed Link: 36525587
Variant Present in the following documents:
  • Main text
  • zsac308.pdf
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: rs8176749
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Association between cardiovascular risk factors and venous thromboembolism in the elderly.

Research And Practice In Thrombosis And Haemostasis
Wang, Huijie H; Rosendaal, Frits R FR; Cushman, Mary M; van Hylckama Vlieg, Astrid A
Publication Date: 2022-02

Variant appearance in text: rs8176749
PubMed Link: 35252737
Variant Present in the following documents:
  • Main text
  • RTH2-6-e12671.pdf
View BVdb publication page



Is Genetic Risk for Sleep Apnea Causally Linked With Glaucoma Susceptibility?

Investigative Ophthalmology & Visual Science
Ingold, Nathan N; Campos, Adrian I AI; Han, Xikun X; Ong, Jue-Sheng JS; Gharahkhani, Puya P; Mackey, David A DA; Rentería, Miguel E ME; Law, Matthew H MH; MacGregor, Stuart S
Publication Date: 2022-01-03

Variant appearance in text: rs8176749
PubMed Link: 35050305
Variant Present in the following documents:
  • iovs-63-1-25_s001.pdf
View BVdb publication page



Identification and replication of novel genetic variants of ABO gene to reduce the incidence of diseases and promote longevity by modulating lipid homeostasis.

Aging
Ni, Xiaolin X; Bai, Chen C; Nie, Chao C; Qi, Liping L; Liu, Yifang Y; Yuan, Huiping H; Zhu, Xiaoquan X; Sun, Liang L; Zhou, Qi Q; Li, Yan Y; Zhen, Hefu H; Su, Huabing H; Li, Rongqiao R; Lan, Rushu R; Pang, Guofang G; Lv, Yuan Y; Zhang, Wei W; Yang, Fan F; Yao, Yao Y; Chen, Chen C; Wang, Zhaoping Z; Gao, Danni D; Zhang, Nan N; Zhang, Shenqi S; Zhang, Li L; Wu, Zhu Z; Hu, Caiyou C; Zeng, Yi Y; Yang, Ze Z
Publication Date: 2021-11-22

Variant appearance in text: rs8176749
PubMed Link: 34812738
Variant Present in the following documents:
  • aging-13-203700.pdf
View BVdb publication page



Identification and replication of novel genetic variants of ABO gene to reduce the incidence of diseases and promote longevity by modulating lipid homeostasis.

Aging
Ni, Xiaolin X; Bai, Chen C; Nie, Chao C; Qi, Liping L; Liu, Yifang Y; Yuan, Huiping H; Zhu, Xiaoquan X; Sun, Liang L; Zhou, Qi Q; Li, Yan Y; Zhen, Hefu H; Su, Huabing H; Li, Rongqiao R; Lan, Rushu R; Pang, Guofang G; Lv, Yuan Y; Zhang, Wei W; Yang, Fan F; Yao, Yao Y; Chen, Chen C; Wang, Zhaoping Z; Gao, Danni D; Zhang, Nan N; Zhang, Shenqi S; Zhang, Li L; Wu, Zhu Z; Hu, Caiyou C; Zeng, Yi Y; Yang, Ze Z
Publication Date: 2021-11-22

Variant appearance in text: rs8176749
PubMed Link: 34812738
Variant Present in the following documents:
  • aging-13-203700.pdf
View BVdb publication page



Blood groups of Neandertals and Denisova decrypted.

Plos One
Condemi, Silvana S; Mazières, Stéphane S; Faux, Pierre P; Costedoat, Caroline C; Ruiz-Linares, Andres A; Bailly, Pascal P; Chiaroni, Jacques J
Publication Date: 2021

Variant appearance in text: rs8176749
PubMed Link: 34320013
Variant Present in the following documents:
  • pone.0254175.s005.xlsx, sheet 1
View BVdb publication page



Lewis and ABO histo-blood types and the secretor status of patients hospitalized with COVID-19 implicate a role for ABO antibodies in susceptibility to infection with SARS-CoV-2.

Transfusion
Matzhold, Eva Maria EM; Berghold, Andrea A; Bemelmans, Maria Karin Berta MKB; Banfi, Chiara C; Stelzl, Evelyn E; Kessler, Harald Hans HH; Steinmetz, Ivo I; Krause, Robert R; Wurzer, Herbert H; Schlenke, Peter P; Wagner, Thomas T
Publication Date: 2021-09

Variant appearance in text: rs8176749
PubMed Link: 34151460
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common and Rare Variants in Genes Associated with von Willebrand Factor Level Variation: No Accumulation of Rare Variants in Swedish von Willebrand Disease Patients.

Th Open : Companion Journal To Thrombosis And Haemostasis
Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C
Publication Date: 2020-10

Variant appearance in text: rs8176749
PubMed Link: 33145474
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allelic distribution of ABO gene in Chinese centenarians.

Aging Medicine (Milton (N.S.W))
Zhu, Ying Y; Liang, Yu Y; Khan, Abdul Haseeb AH; Dong, Minghua M; Wan, Yiqi Y; Sun, Zhichao Z; Zeng, Yi Y; Nie, Chao C; Tian, Xiao-Li XL
Publication Date: 2020-09

Variant appearance in text: rs8176749
PubMed Link: 33103040
Variant Present in the following documents:
  • Main text
  • AGM2-3-195.pdf
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: rs8176749
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Genome-wide analyses disclose the distinctive HLA architecture and the pharmacogenetic landscape of the Somali population.

Scientific Reports
Ali, Abshir A AA; Aalto, Mikko M; Jonasson, Jon J; Osman, Abdimajid A
Publication Date: 2020-03-27

Variant appearance in text: rs8176749
PubMed Link: 32221414
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_62645.pdf
View BVdb publication page



Impact of PSCA Polymorphisms on the Risk of Duodenal Ulcer.

Journal Of Epidemiology
Usui, Yoshiaki Y; Matsuo, Keitaro K; Oze, Isao I; Ugai, Tomotaka T; Koyanagi, Yuriko Y; Maeda, Yoshinobu Y; Ito, Hidemi H; Hishida, Asahi A; Takeuchi, Kenji K; Tamura, Takashi T; Tsukamoto, Mineko M; Kadomatsu, Yuka Y; Hara, Megumi M; Nishida, Yuichiro Y; Shimoshikiryo, Ippei I; Takezaki, Toshiro T; Ozaki, Etsuko E; Matsui, Daisuke D; Watanabe, Isao I; Suzuki, Sadao S; Watanabe, Miki M; Nakagawa-Senda, Hiroko H; Mikami, Haruo H; Nakamura, Yohko Y; Arisawa, Kokichi K; Uemura, Hirokazu H; Kuriki, Kiyonori K; Takashima, Naoyuki N; Kadota, Aya A; Ikezaki, Hiroaki H; Murata, Masayuki M; Nakatochi, Masahiro M; Momozawa, Yukihide Y; Kubo, Michiaki M; Wakai, Kenji K
Publication Date: 2021-01-05

Variant appearance in text: rs8176749
PubMed Link: 31839644
Variant Present in the following documents:
  • Main text
  • je-31-012.pdf
View BVdb publication page



Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

Blood
Lindström, Sara S; Wang, Lu L; Smith, Erin N EN; Gordon, William W; van Hylckama Vlieg, Astrid A; de Andrade, Mariza M; Brody, Jennifer A JA; Pattee, Jack W JW; Haessler, Jeffrey J; Brumpton, Ben M BM; Chasman, Daniel I DI; Suchon, Pierre P; Chen, Ming-Huei MH; Turman, Constance C; Germain, Marine M; Wiggins, Kerri L KL; MacDonald, James J; Braekkan, Sigrid K SK; Armasu, Sebastian M SM; Pankratz, Nathan N; Jackson, Rebecca D RD; Nielsen, Jonas B JB; Giulianini, Franco F; Puurunen, Marja K MK; Ibrahim, Manal M; Heckbert, Susan R SR; Damrauer, Scott M SM; Natarajan, Pradeep P; Klarin, Derek D; , ; de Vries, Paul S PS; Sabater-Lleal, Maria M; Huffman, Jennifer E JE; , ; Bammler, Theo K TK; Frazer, Kelly A KA; McCauley, Bryan M BM; Taylor, Kent K; Pankow, James S JS; Reiner, Alexander P AP; Gabrielsen, Maiken E ME; Deleuze, Jean-François JF; O'Donnell, Chris J CJ; Kim, Jihye J; McKnight, Barbara B; Kraft, Peter P; Hansen, John-Bjarne JB; Rosendaal, Frits R FR; Heit, John A JA; Psaty, Bruce M BM; Tang, Weihong W; Kooperberg, Charles C; Hveem, Kristian K; Ridker, Paul M PM; Morange, Pierre-Emmanuel PE; Johnson, Andrew D AD; Kabrhel, Christopher C; Trégouët, David-Alexandre DA; Smith, Nicholas L NL
Publication Date: 2019-11-07

Variant appearance in text: rs8176749
PubMed Link: 31420334
Variant Present in the following documents:
  • Main text
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: rs8176749
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.

Journal Of Thrombosis And Haemostasis : Jth
de Haan, H G HG; van Hylckama Vlieg, A A; Lotta, L A LA; Gorski, M M MM; Bucciarelli, P P; Martinelli, I I; Baglin, T P TP; Peyvandi, F F; Rosendaal, F R FR; ,
Publication Date: 2018-12

Variant appearance in text: rs8176749
PubMed Link: 30168256
Variant Present in the following documents:
  • NIHMS1021906-supplement-1.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: rs8176749
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



Von Willebrand factor and ADAMTS13 activity in relation to risk of dementia: a population-based study.

Scientific Reports
Wolters, Frank J FJ; Boender, Johan J; de Vries, Paul S PS; Sonneveld, Michelle A MA; Koudstaal, Peter J PJ; de Maat, Moniek P MP; Franco, Oscar H OH; Ikram, M Kamran MK; Leebeek, Frank W FW; Ikram, M Arfan MA
Publication Date: 2018-04-03

Variant appearance in text: rs8176749
PubMed Link: 29615758
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_23865.pdf
View BVdb publication page



Genetic correction improves prediction efficiency of serum tumor biomarkers on digestive cancer risk in the elderly Chinese cohort study.

Oncotarget
Wang, Ke K; Bai, Yansen Y; Chen, Shi S; Huang, Jiao J; Yuan, Jing J; Chen, Weihong W; Yao, Ping P; Miao, Xiaoping X; Wang, Youjie Y; Liang, Yuan Y; Zhang, Xiaomin X; He, Meian M; Yang, Handong H; Wei, Qingyi Q; Guo, Huan H; Wei, Sheng S
Publication Date: 2018-01-26

Variant appearance in text: rs8176749
PubMed Link: 29484118
Variant Present in the following documents:
  • Main text
  • oncotarget-09-7389.pdf
View BVdb publication page



Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.

Plos Biology
Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M
Publication Date: 2018-01

Variant appearance in text: rs8176749
PubMed Link: 29315301
Variant Present in the following documents:
  • pbio.2003703.s013.pdf
  • pbio.2003703.s001.xlsx, sheet 1
View BVdb publication page



Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels.

Blood Advances
Ma, Qianyi Q; Jacobi, Paula M PM; Emmer, Brian T BT; Kretz, Colin A CA; Ozel, Ayse Bilge AB; McGee, Beth B; Kimchi-Sarfaty, Chava C; Ginsburg, David D; Li, Jun Z JZ; Desch, Karl C KC
Publication Date: 2017-06-27

Variant appearance in text: rs8176749
PubMed Link: 29296746
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of circulating GIP and GLP-1 concentrations.

Jci Insight
Almgren, Peter P; Lindqvist, Andreas A; Krus, Ulrika U; Hakaste, Liisa L; Ottosson-Laakso, Emilia E; Asplund, Olof O; Sonestedt, Emily E; Prasad, Rashmi B RB; Laurila, Esa E; Orho-Melander, Marju M; Melander, Olle O; Tuomi, Tiinamaija T; Holst, Jens Juul JJ; Nilsson, Peter M PM; Wierup, Nils N; Groop, Leif L; Ahlqvist, Emma E
Publication Date: 2017-11-02

Variant appearance in text: rs8176749
PubMed Link: 29093273
Variant Present in the following documents:
  • Main text
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: rs8176749
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic-epigenetic interactions in cis: a major focus in the post-GWAS era.

Genome Biology
Do, Catherine C; Shearer, Alyssa A; Suzuki, Masako M; Terry, Mary Beth MB; Gelernter, Joel J; Greally, John M JM; Tycko, Benjamin B
Publication Date: 2017-06-19

Variant appearance in text: rs8176749
PubMed Link: 28629478
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.

Stroke
Williams, Stephen R SR; Hsu, Fang-Chi FC; Keene, Keith L KL; Chen, Wei-Min WM; Dzhivhuho, Godfrey G; Rowles, Joe L JL; Southerland, Andrew M AM; Furie, Karen L KL; Rich, Stephen S SS; Worrall, Bradford B BB; Sale, Michèle M MM; ,
Publication Date: 2017-06

Variant appearance in text: rs8176749
PubMed Link: 28495826
Variant Present in the following documents:
  • Main text
View BVdb publication page



Blood type, ABO genetic variants, and ovarian cancer survival.

Plos One
Cozzi, Gabriella D GD; Levinson, Rebecca T RT; Toole, Hilary H; Snyder, Malcolm-Robert MR; Deng, Angie A; Crispens, Marta A MA; Khabele, Dineo D; Beeghly-Fadiel, Alicia A
Publication Date: 2017

Variant appearance in text: rs8176749
PubMed Link: 28448592
Variant Present in the following documents:
  • Main text
  • pone.0175119.pdf
View BVdb publication page



Connecting genetic risk to disease end points through the human blood plasma proteome.

Nature Communications
Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J
Publication Date: 2017-02-27

Variant appearance in text: rs8176749
PubMed Link: 28240269
Variant Present in the following documents:
  • Main text
  • ncomms14357.pdf
  • ncomms14357-s1.pdf
View BVdb publication page



Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance.

Journal Of Thrombosis And Haemostasis : Jth
Ozel, A B AB; McGee, B B; Siemieniak, D D; Jacobi, P M PM; Haberichter, S L SL; Brody, L C LC; Mills, J L JL; Molloy, A M AM; Ginsburg, D D; Li, J Z JZ; Desch, K C KC
Publication Date: 2016-09

Variant appearance in text: rs8176749
PubMed Link: 27359253
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantitative Influence of ABO Blood Groups on Factor VIII and Its Ratio to von Willebrand Factor, Novel Observations from an ARIC Study of 11,673 Subjects.

Plos One
Song, Jaewoo J; Chen, Fengju F; Campos, Marco M; Bolgiano, Doug D; Houck, Katie K; Chambless, Lloyd E LE; Wu, Kenneth K KK; Folsom, Aaron R AR; Couper, David D; Boerwinkle, Eric E; Dong, Jing-fei JF
Publication Date: 2015

Variant appearance in text: rs8176749
PubMed Link: 26244499
Variant Present in the following documents:
  • Main text
View BVdb publication page



ABO Blood Type and Personality Traits in Healthy Japanese Subjects.

Plos One
Tsuchimine, Shoko S; Saruwatari, Junji J; Kaneda, Ayako A; Yasui-Furukori, Norio N
Publication Date: 2015

Variant appearance in text: rs8176749
PubMed Link: 25978647
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: rs8176749
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.

American Journal Of Hematology
Tang, Weihong W; Cushman, Mary M; Green, David D; Rich, Stephen S SS; Lange, Leslie A LA; Yang, Qiong Q; Tracy, Russell P RP; Tofler, Geoffrey H GH; Basu, Saonli S; Wilson, James G JG; Keating, Brendan J BJ; Weng, Lu-Chen LC; Taylor, Herman A HA; Jacobs, David R DR; Delaney, Joseph A JA; Palmer, Cameron D CD; Young, Taylor T; Pankow, James S JS; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Reiner, Alexander P AP; Folsom, Aaron R AR
Publication Date: 2015-06

Variant appearance in text: rs8176749
PubMed Link: 25779970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Nature Communications
Wessel, Jennifer J; Chu, Audrey Y AY; Willems, Sara M SM; Wang, Shuai S; Yaghootkar, Hanieh H; Brody, Jennifer A JA; Dauriz, Marco M; Hivert, Marie-France MF; Raghavan, Sridharan S; Lipovich, Leonard L; Hidalgo, Bertha B; Fox, Keolu K; Huffman, Jennifer E JE; An, Ping P; Lu, Yingchang Y; Rasmussen-Torvik, Laura J LJ; Grarup, Niels N; Ehm, Margaret G MG; Li, Li L; Baldridge, Abigail S AS; Stančáková, Alena A; Abrol, Ravinder R; Besse, Céline C; Boland, Anne A; Bork-Jensen, Jette J; Fornage, Myriam M; Freitag, Daniel F DF; Garcia, Melissa E ME; Guo, Xiuqing X; Hara, Kazuo K; Isaacs, Aaron A; Jakobsdottir, Johanna J; Lange, Leslie A LA; Layton, Jill C JC; Li, Man M; Hua Zhao, Jing J; Meidtner, Karina K; Morrison, Alanna C AC; Nalls, Mike A MA; Peters, Marjolein J MJ; Sabater-Lleal, Maria M; Schurmann, Claudia C; Silveira, Angela A; Smith, Albert V AV; Southam, Lorraine L; Stoiber, Marcus H MH; Strawbridge, Rona J RJ; Taylor, Kent D KD; Varga, Tibor V TV; Allin, Kristine H KH; Amin, Najaf N; Aponte, Jennifer L JL; Aung, Tin T; Barbieri, Caterina C; Bihlmeyer, Nathan A NA; Boehnke, Michael M; Bombieri, Cristina C; Bowden, Donald W DW; Burns, Sean M SM; Chen, Yuning Y; Chen, Yii-DerI YD; Cheng, Ching-Yu CY; Correa, Adolfo A; Czajkowski, Jacek J; Dehghan, Abbas A; Ehret, Georg B GB; Eiriksdottir, Gudny G; Escher, Stefan A SA; Farmaki, Aliki-Eleni AE; Frånberg, Mattias M; Gambaro, Giovanni G; Giulianini, Franco F; Goddard, William A WA; Goel, Anuj A; Gottesman, Omri O; Grove, Megan L ML; Gustafsson, Stefan S; Hai, Yang Y; Hallmans, Göran G; Heo, Jiyoung J; Hoffmann, Per P; Ikram, Mohammad K MK; Jensen, Richard A RA; Jørgensen, Marit E ME; Jørgensen, Torben T; Karaleftheri, Maria M; Khor, Chiea C CC; Kirkpatrick, Andrea A; Kraja, Aldi T AT; Kuusisto, Johanna J; Lange, Ethan M EM; Lee, I T IT; Lee, Wen-Jane WJ; Leong, Aaron A; Liao, Jiemin J; Liu, Chunyu C; Liu, Yongmei Y; Lindgren, Cecilia M CM; Linneberg, Allan A; Malerba, Giovanni G; Mamakou, Vasiliki V; Marouli, Eirini E; Maruthur, Nisa M NM; Matchan, Angela A; McKean-Cowdin, Roberta R; McLeod, Olga O; Metcalf, Ginger A GA; Mohlke, Karen L KL; Muzny, Donna M DM; Ntalla, Ioanna I; Palmer, Nicholette D ND; Pasko, Dorota D; Peter, Andreas A; Rayner, Nigel W NW; Renström, Frida F; Rice, Ken K; Sala, Cinzia F CF; Sennblad, Bengt B; Serafetinidis, Ioannis I; Smith, Jennifer A JA; Soranzo, Nicole N; Speliotes, Elizabeth K EK; Stahl, Eli A EA; Stirrups, Kathleen K; Tentolouris, Nikos N; Thanopoulou, Anastasia A; Torres, Mina M; Traglia, Michela M; Tsafantakis, Emmanouil E; Javad, Sundas S; Yanek, Lisa R LR; Zengini, Eleni E; Becker, Diane M DM; Bis, Joshua C JC; Brown, James B JB; Cupples, L Adrienne LA; Hansen, Torben T; Ingelsson, Erik E; Karter, Andrew J AJ; Lorenzo, Carlos C; Mathias, Rasika A RA; Norris, Jill M JM; Peloso, Gina M GM; Sheu, Wayne H-H WH; Toniolo, Daniela D; Vaidya, Dhananjay D; Varma, Rohit R; Wagenknecht, Lynne E LE; Boeing, Heiner H; Bottinger, Erwin P EP; Dedoussis, George G; Deloukas, Panos P; Ferrannini, Ele E; Franco, Oscar H OH; Franks, Paul W PW; Gibbs, Richard A RA; Gudnason, Vilmundur V; Hamsten, Anders A; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayward, Caroline C; Hofman, Albert A; Jansson, Jan-Håkan JH; Langenberg, Claudia C; Launer, Lenore J LJ; Levy, Daniel D; Oostra, Ben A BA; O'Donnell, Christopher J CJ; O'Rahilly, Stephen S; Padmanabhan, Sandosh S; Pankow, James S JS; Polasek, Ozren O; Province, Michael A MA; Rich, Stephen S SS; Ridker, Paul M PM; Rudan, Igor I; Schulze, Matthias B MB; Smith, Blair H BH; Uitterlinden, André G AG; Walker, Mark M; Watkins, Hugh H; Wong, Tien Y TY; Zeggini, Eleftheria E; , ; Laakso, Markku M; Borecki, Ingrid B IB; Chasman, Daniel I DI; Pedersen, Oluf O; Psaty, Bruce M BM; Tai, E Shyong ES; van Duijn, Cornelia M CM; Wareham, Nicholas J NJ; Waterworth, Dawn M DM; Boerwinkle, Eric E; Kao, W H Linda WH; Florez, Jose C JC; Loos, Ruth J F RJ; Wilson, James G JG; Frayling, Timothy M TM; Siscovick, David S DS; Dupuis, Josée J; Rotter, Jerome I JI; Meigs, James B JB; Scott, Robert A RA; Goodarzi, Mark O MO
Publication Date: 2015-01-29

Variant appearance in text: rs8176749
PubMed Link: 25631608
Variant Present in the following documents:
  • Main text
  • ncomms6897.pdf
  • ncomms6897-s1.pdf
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A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study.

Human Molecular Genetics
Weng, Lu-Chen LC; Cushman, Mary M; Pankow, James S JS; Basu, Saonli S; Boerwinkle, Eric E; Folsom, Aaron R AR; Tang, Weihong W
Publication Date: 2015-04-15

Variant appearance in text: rs8176749
PubMed Link: 25552651
Variant Present in the following documents:
  • Main text
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ABO blood type, factor VIII, and incident cognitive impairment in the REGARDS cohort.

Neurology
Alexander, Kristine S KS; Zakai, Neil A NA; Gillett, Sarah S; McClure, Leslie A LA; Wadley, Virginia V; Unverzagt, Fred F; Cushman, Mary M
Publication Date: 2014-09-30

Variant appearance in text: rs8176749
PubMed Link: 25209581
Variant Present in the following documents:
  • Main text
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Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Nature Genetics
Hysi, Pirro G PG; Cheng, Ching-Yu CY; Springelkamp, Henriët H; Macgregor, Stuart S; Bailey, Jessica N Cooke JNC; Wojciechowski, Robert R; Vitart, Veronique V; Nag, Abhishek A; Hewitt, Alex W AW; Höhn, René R; Venturini, Cristina C; Mirshahi, Alireza A; Ramdas, Wishal D WD; Thorleifsson, Gudmar G; Vithana, Eranga E; Khor, Chiea-Chuen CC; Stefansson, Arni B AB; Liao, Jiemin J; Haines, Jonathan L JL; Amin, Najaf N; Wang, Ya Xing YX; Wild, Philipp S PS; Ozel, Ayse B AB; Li, Jun Z JZ; Fleck, Brian W BW; Zeller, Tanja T; Staffieri, Sandra E SE; Teo, Yik-Ying YY; Cuellar-Partida, Gabriel G; Luo, Xiaoyan X; Allingham, R Rand RR; Richards, Julia E JE; Senft, Andrea A; Karssen, Lennart C LC; Zheng, Yingfeng Y; Bellenguez, Céline C; Xu, Liang L; Iglesias, Adriana I AI; Wilson, James F JF; Kang, Jae H JH; van Leeuwen, Elisabeth M EM; Jonsson, Vesteinn V; Thorsteinsdottir, Unnur U; Despriet, Dominiek D G DDG; Ennis, Sarah S; Moroi, Sayoko E SE; Martin, Nicholas G NG; Jansonius, Nomdo M NM; Yazar, Seyhan S; Tai, E-Shyong ES; Amouyel, Philippe P; Kirwan, James J; van Koolwijk, Leonieke M E LME; Hauser, Michael A MA; Jonasson, Fridbert F; Leo, Paul P; Loomis, Stephanie J SJ; Fogarty, Rhys R; Rivadeneira, Fernando F; Kearns, Lisa L; Lackner, Karl J KJ; de Jong, Paulus T V M PTVM; Simpson, Claire L CL; Pennell, Craig E CE; Oostra, Ben A BA; Uitterlinden, André G AG; Saw, Seang-Mei SM; Lotery, Andrew J AJ; Bailey-Wilson, Joan E JE; Hofman, Albert A; Vingerling, Johannes R JR; Maubaret, Cécilia C; Pfeiffer, Norbert N; Wolfs, Roger C W RCW; Lemij, Hans G HG; Young, Terri L TL; Pasquale, Louis R LR; Delcourt, Cécile C; Spector, Timothy D TD; Klaver, Caroline C W CCW; Small, Kerrin S KS; Burdon, Kathryn P KP; Stefansson, Kari K; Wong, Tien-Yin TY; , ; , ; , ; Viswanathan, Ananth A; Mackey, David A DA; Craig, Jamie E JE; Wiggs, Janey L JL; van Duijn, Cornelia M CM; Hammond, Christopher J CJ; Aung, Tin T
Publication Date: 2014-10

Variant appearance in text: rs8176749
PubMed Link: 25173106
Variant Present in the following documents:
  • NIHMS59965-supplement-1.pdf
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Pleiotropic effect of common variants at ABO Glycosyltranferase locus in 9q32 on plasma levels of pancreatic lipase and angiotensin converting enzyme.

Plos One
,
Publication Date: 2014

Variant appearance in text: rs8176749
PubMed Link: 24586218
Variant Present in the following documents:
  • Main text
  • pone.0055903.pdf
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ABO blood type and stroke risk: the REasons for Geographic And Racial Differences in Stroke Study.

Journal Of Thrombosis And Haemostasis : Jth
Zakai, N A NA; Judd, S E SE; Alexander, K K; McClure, L A LA; Kissela, B M BM; Howard, G G; Cushman, M M
Publication Date: 2014-04

Variant appearance in text: rs8176749
PubMed Link: 24444093
Variant Present in the following documents:
  • Main text
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Risk of advanced gastric precancerous lesions in Helicobacter pylori infected subjects is influenced by ABO blood group and cagA status.

International Journal Of Cancer
Rizzato, Cosmeri C; Kato, Ikuko I; Plummer, Martyn M; Muñoz, Nubia N; Stein, Angelika A; Jan van Doorn, Leen L; Franceschi, Silvia S; Canzian, Federico F
Publication Date: 2013-07-15

Variant appearance in text: rs8176749
PubMed Link: 23319424
Variant Present in the following documents:
  • Main text
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Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Desch, Karl C KC; Ozel, Ayse B AB; Siemieniak, David D; Kalish, Yossi Y; Shavit, Jordan A JA; Thornburg, Courtney D CD; Sharathkumar, Anjali A AA; McHugh, Caitlin P CP; Laurie, Cathy C CC; Crenshaw, Andrew A; Mirel, Daniel B DB; Kim, Yoonhee Y; Cropp, Cheryl D CD; Molloy, Anne M AM; Kirke, Peadar N PN; Bailey-Wilson, Joan E JE; Wilson, Alexander F AF; Mills, James L JL; Scott, John M JM; Brody, Lawrence C LC; Li, Jun Z JZ; Ginsburg, David D
Publication Date: 2013-01-08

Variant appearance in text: rs8176749
PubMed Link: 23267103
Variant Present in the following documents:
  • Main text
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ABO Blood Groups and Cardiovascular Diseases.

International Journal Of Vascular Medicine
Zhang, Hanrui H; Mooney, Ciarán J CJ; Reilly, Muredach P MP
Publication Date: 2012

Variant appearance in text: rs8176749
PubMed Link: 23133757
Variant Present in the following documents:
  • Main text
  • IJVM2012-641917.pdf
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Genetic determinants of plasma von Willebrand factor antigen levels: a target gene SNP and haplotype analysis of ARIC cohort.

Blood
Campos, Marco M; Sun, Wei W; Yu, Fuli F; Barbalic, Maja M; Tang, Weihong W; Chambless, Lloyd E LE; Wu, Kenneth K KK; Ballantyne, Christie C; Folsom, Aaron R AR; Boerwinkle, Eric E; Dong, Jing-Fei JF
Publication Date: 2011-05-12

Variant appearance in text: rs8176749
PubMed Link: 21343614
Variant Present in the following documents:
  • Main text
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Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.

Human Molecular Genetics
Barbalic, Maja M; Dupuis, Josée J; Dehghan, Abbas A; Bis, Joshua C JC; Hoogeveen, Ron C RC; Schnabel, Renate B RB; Nambi, Vijay V; Bretler, Monique M; Smith, Nicholas L NL; Peters, Annette A; Lu, Chen C; Tracy, Russell P RP; Aleksic, Nena N; Heeriga, Jan J; Keaney, John F JF; Rice, Kenneth K; Lip, Gregory Y H GY; Vasan, Ramachandran S RS; Glazer, Nicole L NL; Larson, Martin G MG; Uitterlinden, Andre G AG; Yamamoto, Jennifer J; Durda, Peter P; Haritunians, Talin T; Psaty, Bruce M BM; Boerwinkle, Eric E; Hofman, Albert A; Koenig, Wolfgang W; Jenny, Nancy S NS; Witteman, Jacqueline C JC; Ballantyne, Christie C; Benjamin, Emelia J EJ
Publication Date: 2010-05-01

Variant appearance in text: rs8176749
PubMed Link: 20167578
Variant Present in the following documents:
  • Main text
View BVdb publication page