APOH c.1004G>C ;(p.W335S)

Variant ID: 17-64208285-C-G

NM_000042.2(APOH):c.1004G>C;(p.W335S)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


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: APOH: W335S
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits.

Scientific Reports
Deming, Yuetiva Y; Xia, Jian J; Cai, Yefei Y; Lord, Jenny J; Del-Aguila, Jorge L JL; Fernandez, Maria Victoria MV; Carrell, David D; Black, Kathleen K; Budde, John J; Ma, ShengMei S; Saef, Benjamin B; Howells, Bill B; Bertelsen, Sarah S; Bailey, Matthew M; Ridge, Perry G PG; , ; Holtzman, David D; Morris, John C JC; Bales, Kelly K; Pickering, Eve H EH; Lee, Jin-Moo JM; Heitsch, Laura L; Kauwe, John J; Goate, Alison A; Piccio, Laura L; Cruchaga, Carlos C
Publication Date: 2016-01-04

Variant appearance in text: APOH: W335S; rs1801690
PubMed Link: 36647296
Variant Present in the following documents:
  • srep18092.pdf
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: APOH: W335S; rs1801690
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 1
View BVdb publication page



Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open
Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ
Publication Date: 2022-12-01

Variant appearance in text: rs1801690
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
View BVdb publication page



Genetic variants associated with circulating liver injury markers in Mexican Americans, a population at risk for non-alcoholic fatty liver disease.

Frontiers In Genetics
Sabotta, Caroline M CM; Kwan, Suet-Ying SY; Petty, Lauren E LE; Below, Jennifer E JE; Joon, Aron A; Wei, Peng P; Fisher-Hoch, Susan P SP; McCormick, Joseph B JB; Beretta, Laura L
Publication Date: 2022

Variant appearance in text: rs1801690
PubMed Link: 36386790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine
Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y
Publication Date: 2022

Variant appearance in text: APOH: W335S
PubMed Link: 36277747
Variant Present in the following documents:
  • Data_Sheet_1.xls, sheet 1
View BVdb publication page



Tissue-specific multi-omics analysis of atrial fibrillation.

Nature Communications
Assum, Ines I; Krause, Julia J; Scheinhardt, Markus O MO; Müller, Christian C; Hammer, Elke E; Börschel, Christin S CS; Völker, Uwe U; Conradi, Lenard L; Geelhoed, Bastiaan B; Zeller, Tanja T; Schnabel, Renate B RB; Heinig, Matthias M
Publication Date: 2022-01-21

Variant appearance in text: rs1801690
PubMed Link: 35064145
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_27953.pdf
  • 41467_2022_27953_MOESM2_ESM.pdf
View BVdb publication page



Tissue-specific multi-omics analysis of atrial fibrillation.

Nature Communications
Assum, Ines I; Krause, Julia J; Scheinhardt, Markus O MO; Müller, Christian C; Hammer, Elke E; Börschel, Christin S CS; Völker, Uwe U; Conradi, Lenard L; Geelhoed, Bastiaan B; Zeller, Tanja T; Schnabel, Renate B RB; Heinig, Matthias M
Publication Date: 2022-01-21

Variant appearance in text: rs1801690
PubMed Link: 35064145
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_27953.pdf
  • 41467_2022_27953_MOESM2_ESM.pdf
View BVdb publication page



Levels of Angiotensin-Converting Enzyme and Apolipoproteins Are Associated with Alzheimer's Disease and Cardiovascular Diseases.

Cells
Xu, Chun C; Garcia, Debra D; Lu, Yongke Y; Ozuna, Kaysie K; Adjeroh, Donald A DA; Wang, Kesheng K; On Behalf Of The Alzheimer's Disease Neuroimaging Initiative,
Publication Date: 2021-12-23

Variant appearance in text: rs1801690
PubMed Link: 35011591
Variant Present in the following documents:
  • Main text
  • cells-11-00029.pdf
View BVdb publication page



Levels of Angiotensin-Converting Enzyme and Apolipoproteins Are Associated with Alzheimer's Disease and Cardiovascular Diseases.

Cells
Xu, Chun C; Garcia, Debra D; Lu, Yongke Y; Ozuna, Kaysie K; Adjeroh, Donald A DA; Wang, Kesheng K; On Behalf Of The Alzheimer's Disease Neuroimaging Initiative,
Publication Date: 2021-12-23

Variant appearance in text: rs1801690
PubMed Link: 35011591
Variant Present in the following documents:
  • Main text
  • cells-11-00029.pdf
View BVdb publication page



SYTL3-SLC22A3 Single-Nucleotide Polymorphisms and Gene-Gene/Environment Interactions on the Risk of Hyperlipidemia.

Frontiers In Genetics
Zheng, Peng-Fei PF; Yin, Rui-Xing RX; Cao, Xiao-Li XL; Guan, Yao-Zong YZ; Deng, Guo-Xiong GX; Wei, Bi-Liu BL; Liu, Chun-Xiao CX
Publication Date: 2021

Variant appearance in text: rs1801690
PubMed Link: 34367243
Variant Present in the following documents:
  • fgene-12-679027.pdf
View BVdb publication page



Genome-wide association study of cardiac troponin I in the general population.

Human Molecular Genetics
Moksnes, Marta R MR; Røsjø, Helge H; Richmond, Anne A; Lyngbakken, Magnus N MN; Graham, Sarah E SE; Hansen, Ailin Falkmo AF; Wolford, Brooke N BN; Gagliano Taliun, Sarah A SA; LeFaive, Jonathon J; Rasheed, Humaira H; Thomas, Laurent F LF; Zhou, Wei W; Aung, Nay N; Surakka, Ida I; Douville, Nicholas J NJ; Campbell, Archie A; Porteous, David J DJ; Petersen, Steffen E SE; Munroe, Patricia B PB; Welsh, Paul P; Sattar, Naveed N; Smith, George Davey GD; Fritsche, Lars G LG; Nielsen, Jonas B JB; Åsvold, Bjørn Olav BO; Hveem, Kristian K; Hayward, Caroline C; Willer, Cristen J CJ; Brumpton, Ben M BM; Omland, Torbjørn T
Publication Date: 2021-10-13

Variant appearance in text: rs1801690
PubMed Link: 33961016
Variant Present in the following documents:
  • Main text
View BVdb publication page



Weighted gene co-expression network analysis to identify key modules and hub genes related to hyperlipidaemia.

Nutrition & Metabolism
Liao, Fu-Jun FJ; Zheng, Peng-Fei PF; Guan, Yao-Zong YZ; Pan, Hong-Wei HW; Li, Wei W
Publication Date: 2021-03-04

Variant appearance in text: rs1801690
PubMed Link: 33663541
Variant Present in the following documents:
  • 12986_2021_Article_555.pdf
View BVdb publication page



Association between SLC44A4-NOTCH4 SNPs and serum lipid levels in the Chinese Han and Maonan ethnic groups.

Nutrition & Metabolism
Zheng, Peng-Fei PF; Yin, Rui-Xing RX; Guan, Yao-Zong YZ; Wei, Bi-Liu BL; Liu, Chun-Xiao CX; Deng, Guo-Xiong GX
Publication Date: 2020-12-14

Variant appearance in text: rs1801690
PubMed Link: 33317561
Variant Present in the following documents:
  • 12986_2020_Article_533.pdf
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: APOH: W335S
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.

Nature Communications
Zhou, Wei W; Brumpton, Ben B; Kabil, Omer O; Gudmundsson, Julius J; Thorleifsson, Gudmar G; Weinstock, Josh J; Zawistowski, Matthew M; Nielsen, Jonas B JB; Chaker, Layal L; Medici, Marco M; Teumer, Alexander A; Naitza, Silvia S; Sanna, Serena S; Schultheiss, Ulla T UT; Cappola, Anne A; Karjalainen, Juha J; Kurki, Mitja M; Oneka, Morgan M; Taylor, Peter P; Fritsche, Lars G LG; Graham, Sarah E SE; Wolford, Brooke N BN; Overton, William W; Rasheed, Humaira H; Haug, Eirin B EB; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Surakka, Ida I; Davey Smith, George G; Pandit, Anita A; Roychowdhury, Tanmoy T; Hornsby, Whitney E WE; Jonasson, Jon G JG; Senter, Leigha L; Liyanarachchi, Sandya S; Ringel, Matthew D MD; Xu, Li L; Kiemeney, Lambertus A LA; He, Huiling H; Netea-Maier, Romana T RT; Mayordomo, Jose I JI; Plantinga, Theo S TS; Hrafnkelsson, Jon J; Hjartarson, Hannes H; Sturgis, Erich M EM; Palotie, Aarno A; Daly, Mark M; Citterio, Cintia E CE; Arvan, Peter P; Brummett, Chad M CM; Boehnke, Michael M; de la Chapelle, Albert A; Stefansson, Kari K; Hveem, Kristian K; Willer, Cristen J CJ; Åsvold, Bjørn Olav BO
Publication Date: 2020-08-07

Variant appearance in text: rs1801690
PubMed Link: 32769997
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_17718.pdf
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: APOH: 1004G>C; W335S; rs1801690
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



SYNE1-QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine
Zheng, Peng-Fei PF; Yin, Rui-Xing RX; Liu, Chun-Xiao CX; Deng, Guo-Xiong GX; Guan, Yao-Zong YZ; Wei, Bi-Liu BL
Publication Date: 2020-05

Variant appearance in text: rs1801690
PubMed Link: 32281752
Variant Present in the following documents:
  • JCMM-24-5772.pdf
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: APOH: W335S
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: APOH: W335S; rs1801690
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta.

Elife
Pernemalm, Maria M; Sandberg, AnnSofi A; Zhu, Yafeng Y; Boekel, Jorrit J; Tamburro, Davide D; Schwenk, Jochen M JM; Björk, Albin A; Wahren-Herlenius, Marie M; Åmark, Hanna H; Östenson, Claes-Göran CG; Westgren, Magnus M; Lehtiö, Janne J
Publication Date: 2019-04-08

Variant appearance in text: APOH: 1004G>C; W335S; rs1801690
PubMed Link: 30958262
Variant Present in the following documents:
  • elife-41608-supp9.xlsx, sheet 1
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: APOH: W335S; rs1801690
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
  • 10.1194_P086710_jlr.P086710-2.xlsx, sheet 2
  • jlrP086710.pdf
  • 10.1194_P086710_jlr.P086710-2.xlsx, sheet 1
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 5
View BVdb publication page



Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Bmc Medical Genetics
Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I
Publication Date: 2018-05-30

Variant appearance in text: rs1801690
PubMed Link: 29843651
Variant Present in the following documents:
  • 12881_2018_608_MOESM1_ESM.pdf
View BVdb publication page



Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V
Publication Date: 2017-06-02

Variant appearance in text: rs1801690
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_488.pdf
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: APOH: W335S; rs1801690
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: rs1801690
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
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: APOH: W335S
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
View BVdb publication page



Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults.

Scientific Reports
Mather, Karen A KA; Thalamuthu, Anbupalam A; Oldmeadow, Christopher C; Song, Fei F; Armstrong, Nicola J NJ; Poljak, Anne A; Holliday, Elizabeth G EG; McEvoy, Mark M; Kwok, John B JB; Assareh, Amelia A AA; Reppermund, Simone S; Kochan, Nicole A NA; Lee, Teresa T; Ames, David D; Wright, Margaret J MJ; Trollor, Julian N JN; Schofield, Peter W PW; Brodaty, Henry H; Scott, Rodney J RJ; Schofield, Peter R PR; Attia, John R JR; Sachdev, Perminder S PS
Publication Date: 2016-03-31

Variant appearance in text: APOH: Trp335Ser; rs1801690
PubMed Link: 27030319
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOH interacts with FTO to predispose to healthy thinness.

Human Genetics
Hasstedt, Sandra J SJ; Coon, Hilary H; Xin, Yuanpei Y; Adams, Ted D TD; Hunt, Steven C SC
Publication Date: 2016-02

Variant appearance in text: rs1801690
PubMed Link: 26711810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study.

Plos One
About, Frédégonde F; Oudot-Mellakh, Tiphaine T; Niay, Jonathan J; Rabiéga, Pascaline P; Pedergnana, Vincent V; Duffy, Darragh D; Sultanik, Philippe P; Cagnot, Carole C; Carrat, Fabrice F; Marcellin, Patrick P; Zoulim, Fabien F; Larrey, Dominique D; Hézode, Christophe C; Fontaine, Hélène H; Bronowicki, Jean-Pierre JP; Pol, Stanislas S; Albert, Matthew L ML; Theodorou, Ioannis I; Cobat, Aurélie A; Abel, Laurent L; ,
Publication Date: 2015

Variant appearance in text: rs1801690
PubMed Link: 26670100
Variant Present in the following documents:
  • Main text
  • pone.0145105.pdf
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: rs1801690
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Association of the Trp316Ser variant (rs1801690) near the apolipoprotein H (β2-glycoprotein-I) gene and serum lipid levels.

International Journal Of Clinical And Experimental Pathology
Guo, Tao T; Yin, Rui-Xing RX; Li, Hui H; Wang, Yi-Ming YM; Wu, Jin-Zhen JZ; Yang, De-Zhai DZ
Publication Date: 2015

Variant appearance in text: rs1801690
PubMed Link: 26261630
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: APOH: W335S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics
Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA
Publication Date: 2015-02-11

Variant appearance in text: APOH: W335S; rs1801690
PubMed Link: 25888430
Variant Present in the following documents:
  • 12863_2015_177_MOESM1_ESM.xls, sheet 1
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: APOH: W335S; rs1801690
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: APOH: W335S; rs1801690
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of antiphospholipid antibodies.

Autoimmune Diseases
Kamboh, M Ilyas MI; Wang, Xingbin X; Kao, Amy H AH; Barmada, Michael M MM; Clarke, Ann A; Ramsey-Goldman, Rosalind R; Manzi, Susan S; Demirci, F Yesim FY
Publication Date: 2013

Variant appearance in text: rs1801690
PubMed Link: 23509613
Variant Present in the following documents:
  • Main text
  • AD2013-761046.pdf
View BVdb publication page



Brief Report: Single-nucleotide polymorphisms in VKORC1 are risk factors for systemic lupus erythematosus in Asians.

Arthritis And Rheumatism
Kaiser, Rachel R; Taylor, Kimberly E KE; Deng, Yun Y; Zhao, Jian J; Li, Yonghong Y; Nititham, Joanne J; Chang, Monica M; Catanese, Joseph J; Begovich, Ann B AB; Brown, Elizabeth E EE; Edberg, Jeffrey C JC; McGwin, Gerald G; Alarcón, Graciela S GS; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Vila, Luis M LM; Petri, Michelle M; Kimberly, Robert P RP; Feng, Xuebing X; Sun, Lingyun L; Shen, Nan N; Li, Wei W; Lu, Jian-Xin JX; Wakeland, Edward K EK; Li, Quan-Zhen QZ; Yang, Wanling W; Lau, Yu-Lung YL; Liu, Fei-Lan FL; Chang, Deh-Ming DM; Yu, Chack-Yung CY; Song, Yeong W YW; Tsao, Betty P BP; Criswell, Lindsey A LA; ,
Publication Date: 2013-01

Variant appearance in text: rs1801690
PubMed Link: 23124848
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk factors for thrombosis in systemic lupus erythematosus.

The Journal Of Rheumatology
Kaiser, Rachel R; Li, Yonghong Y; Chang, Monica M; Catanese, Joseph J; Begovich, Ann B AB; Brown, Elizabeth E EE; Edberg, Jeffrey C JC; McGwin, Gerald G; Alarcón, Graciela S GS; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Vilá, Luis M LM; Petri, Michelle A MA; Kimberly, Robert P RP; Taylor, Kimberly E KE; Criswell, Lindsey A LA
Publication Date: 2012-08

Variant appearance in text: rs1801690
PubMed Link: 22707612
Variant Present in the following documents:
  • Main text
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Interpretome: a freely available, modular, and secure personal genome interpretation engine.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Karczewski, Konrad J KJ; Tirrell, Robert P RP; Cordero, Pablo P; Tatonetti, Nicholas P NP; Dudley, Joel T JT; Salari, Keyan K; Snyder, Michael M; Altman, Russ B RB; Kim, Stuart K SK
Publication Date: 2012

Variant appearance in text: rs1801690
PubMed Link: 22174289
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Functional and genetic characterization of the promoter region of apolipoprotein H (beta2-glycoprotein I).

The Febs Journal
Suresh, Sangita S; Demirci, F Yesim FY; Lefterov, Iliya I; Kammerer, Candace M CM; Ramsey-Goldman, Rosalind R; Manzi, Susan S; Kamboh, M Ilyas MI
Publication Date: 2010-02

Variant appearance in text: rs1801690
PubMed Link: 20089041
Variant Present in the following documents:
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