Variant ID: 1-55529215-C-T

NM_174936.3(PCSK9):c.2037C>T;(p.C679=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.

Nature Genetics
Li, Xihao X; Li, Zilin Z; Zhou, Hufeng H; Gaynor, Sheila M SM; Liu, Yaowu Y; Chen, Han H; Sun, Ryan R; Dey, Rounak R; Arnett, Donna K DK; Aslibekyan, Stella S; Ballantyne, Christie M CM; Bielak, Lawrence F LF; Blangero, John J; Boerwinkle, Eric E; Bowden, Donald W DW; Broome, Jai G JG; Conomos, Matthew P MP; Correa, Adolfo A; Cupples, L Adrienne LA; Curran, Joanne E JE; Freedman, Barry I BI; Guo, Xiuqing X; Hindy, George G; Irvin, Marguerite R MR; Kardia, Sharon L R SLR; Kathiresan, Sekar S; Khan, Alyna T AT; Kooperberg, Charles L CL; Laurie, Cathy C CC; Liu, X Shirley XS; Mahaney, Michael C MC; Manichaikul, Ani W AW; Martin, Lisa W LW; Mathias, Rasika A RA; McGarvey, Stephen T ST; Mitchell, Braxton D BD; Montasser, May E ME; Moore, Jill E JE; Morrison, Alanna C AC; O'Connell, Jeffrey R JR; Palmer, Nicholette D ND; Pampana, Akhil A; Peralta, Juan M JM; Peyser, Patricia A PA; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Smith, Jennifer A JA; Tiwari, Hemant K HK; Tsai, Michael Y MY; Vasan, Ramachandran S RS; Wang, Fei Fei FF; Weeks, Daniel E DE; Weng, Zhiping Z; Wilson, James G JG; Yanek, Lisa R LR; , ; , ; Neale, Benjamin M BM; Sunyaev, Shamil R SR; Abecasis, Gonçalo R GR; Rotter, Jerome I JI; Willer, Cristen J CJ; Peloso, Gina M GM; Natarajan, Pradeep P; Lin, Xihong X
Publication Date: 2020-09

Variant appearance in text: rs28362286
PubMed Link: 32839606
Variant Present in the following documents:
  • Main text
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Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics
Hu, Yao Y; Graff, Mariaelisa M; Haessler, Jeffrey J; Buyske, Steven S; Bien, Stephanie A SA; Tao, Ran R; Highland, Heather M HM; Nishimura, Katherine K KK; Zubair, Niha N; Lu, Yingchang Y; Verbanck, Marie M; Hilliard, Austin T AT; Klarin, Derek D; Damrauer, Scott M SM; Ho, Yuk-Lam YL; , ; Wilson, Peter W F PWF; Chang, Kyong-Mi KM; Tsao, Philip S PS; Cho, Kelly K; O'Donnell, Christopher J CJ; Assimes, Themistocles L TL; Petty, Lauren E LE; Below, Jennifer E JE; Dikilitas, Ozan O; Schaid, Daniel J DJ; Kosel, Matthew L ML; Kullo, Iftikhar J IJ; Rasmussen-Torvik, Laura J LJ; Jarvik, Gail P GP; Feng, Qiping Q; Wei, Wei-Qi WQ; Larson, Eric B EB; Mentch, Frank D FD; Almoguera, Berta B; Sleiman, Patrick M PM; Raffield, Laura M LM; Correa, Adolfo A; Martin, Lisa W LW; Daviglus, Martha M; Matise, Tara C TC; Ambite, Jose Luis JL; Carlson, Christopher S CS; Do, Ron R; Loos, Ruth J F RJF; Wilkens, Lynne R LR; Le Marchand, Loic L; Haiman, Chris C; Stram, Daniel O DO; Hindorff, Lucia A LA; North, Kari E KE; Kooperberg, Charles C; Cheng, Iona I; Peters, Ulrike U
Publication Date: 2020-03

Variant appearance in text: rs28362286
PubMed Link: 32226016
Variant Present in the following documents:
  • Main text
View BVdb publication page



EDEM3 Modulates Plasma Triglyceride Level through Its Regulation of LRP1 Expression.

Iscience
Xu, Yu-Xin YX; Peloso, Gina M GM; Nagai, Taylor H TH; Mizoguchi, Taiji T; Deik, Amy A; Bullock, Kevin K; Lin, Honghuang H; Musunuru, Kiran K; Yang, Qiong Q; Vasan, Ramachandran S RS; Gerszten, Robert E RE; Clish, Clary B CB; Rader, Daniel D; Kathiresan, Sekar S
Publication Date: 2020-04-24

Variant appearance in text: rs28362286
PubMed Link: 32213464
Variant Present in the following documents:
  • Main text
View BVdb publication page



A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ
Publication Date: 2019

Variant appearance in text: rs28362286
PubMed Link: 30774981
Variant Present in the following documents:
  • Main text
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Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Bmc Medical Genetics
Modi, Bhavi P BP; Parikh, Hardik I HI; Teves, Maria E ME; Kulkarni, Rewa R; Liyu, Jiang J; Romero, Roberto R; York, Timothy P TP; Strauss, Jerome F JF
Publication Date: 2018-10-05

Variant appearance in text: rs28362286
PubMed Link: 30290772
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication and fine-mapping of genetic predictors of lipid traits in African-Americans.

Journal Of Human Genetics
Feng, QiPing Q; Wei, Wei-Qi WQ; Levinson, Rebecca T RT; Mosley, Jonathan D JD; Stein, C Michael CM
Publication Date: 2017-10

Variant appearance in text: rs28362286
PubMed Link: 28539666
Variant Present in the following documents:
  • Main text
View BVdb publication page