PMF1-BGLAP c.162-1666G>C

Variant ID: 1-156200445-G-C

NM_001199662.1(PMF1-BGLAP):c.162-1666G>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals.

Aging Cell
Liu, Xiaomin X; Song, Zijun Z; Li, Yan Y; Yao, Yao Y; Fang, Mingyan M; Bai, Chen C; An, Peng P; Chen, Huashuai H; Chen, Zhihua Z; Tang, Biyao B; Shen, Juan J; Gao, Xiaotong X; Zhang, Mingrong M; Chen, Pengyu P; Zhang, Tao T; Jia, Huijue H; Liu, Xiao X; Hou, Yong Y; Yang, Huanming H; Wang, Jian J; Wang, Fudi F; Xu, Xun X; Min, Junxia J; Nie, Chao C; Zeng, Yi Y
Publication Date: 2021-03

Variant appearance in text: rs2758605
PubMed Link: 33657282
Variant Present in the following documents:
  • ACEL-20-e13323-s014.xlsx, sheet 1
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Genome-wide association study of cerebral small vessel disease reveals established and novel loci.

Brain : A Journal Of Neurology
Chung, Jaeyoon J; Marini, Sandro S; Pera, Joanna J; Norrving, Bo B; Jimenez-Conde, Jordi J; Roquer, Jaume J; Fernandez-Cadenas, Israel I; Tirschwell, David L DL; Selim, Magdy M; Brown, Devin L DL; Silliman, Scott L SL; Worrall, Bradford B BB; Meschia, James F JF; Demel, Stacie S; Greenberg, Steven M SM; Slowik, Agnieszka A; Lindgren, Arne A; Schmidt, Reinhold R; Traylor, Matthew M; Sargurupremraj, Muralidharan M; Tiedt, Steffen S; Malik, Rainer R; Debette, Stéphanie S; Dichgans, Martin M; Langefeld, Carl D CD; Woo, Daniel D; Rosand, Jonathan J; Anderson, Christopher D CD
Publication Date: 2019-10-01

Variant appearance in text: rs2758605
PubMed Link: 31430377
Variant Present in the following documents:
  • Main text
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Regulation of Glucose Handling by the Skeleton: Insights From Mouse and Human Studies.

Diabetes
Liu, Jian-Min JM; Rosen, Clifford J CJ; Ducy, Patricia P; Kousteni, Stavroula S; Karsenty, Gerard G
Publication Date: 2016-11

Variant appearance in text: rs2758605
PubMed Link: 27959858
Variant Present in the following documents:
  • Main text
  • db160053.pdf
View BVdb publication page



Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.

American Journal Of Human Genetics
Woo, Daniel D; Falcone, Guido J GJ; Devan, William J WJ; Brown, W Mark WM; Biffi, Alessandro A; Howard, Timothy D TD; Anderson, Christopher D CD; Brouwers, H Bart HB; Valant, Valerie V; Battey, Thomas W K TW; Radmanesh, Farid F; Raffeld, Miriam R MR; Baedorf-Kassis, Sylvia S; Deka, Ranjan R; Woo, Jessica G JG; Martin, Lisa J LJ; Haverbusch, Mary M; Moomaw, Charles J CJ; Sun, Guangyun G; Broderick, Joseph P JP; Flaherty, Matthew L ML; Martini, Sharyl R SR; Kleindorfer, Dawn O DO; Kissela, Brett B; Comeau, Mary E ME; Jagiella, Jeremiasz M JM; Schmidt, Helena H; Freudenberger, Paul P; Pichler, Alexander A; Enzinger, Christian C; Hansen, Björn M BM; Norrving, Bo B; Jimenez-Conde, Jordi J; Giralt-Steinhauer, Eva E; Elosua, Roberto R; Cuadrado-Godia, Elisa E; Soriano, Carolina C; Roquer, Jaume J; Kraft, Peter P; Ayres, Alison M AM; Schwab, Kristin K; McCauley, Jacob L JL; Pera, Joanna J; Urbanik, Andrzej A; Rost, Natalia S NS; Goldstein, Joshua N JN; Viswanathan, Anand A; Stögerer, Eva-Maria EM; Tirschwell, David L DL; Selim, Magdy M; Brown, Devin L DL; Silliman, Scott L SL; Worrall, Bradford B BB; Meschia, James F JF; Kidwell, Chelsea S CS; Montaner, Joan J; Fernandez-Cadenas, Israel I; Delgado, Pilar P; Malik, Rainer R; Dichgans, Martin M; Greenberg, Steven M SM; Rothwell, Peter M PM; Lindgren, Arne A; Slowik, Agnieszka A; Schmidt, Reinhold R; Langefeld, Carl D CD; Rosand, Jonathan J; ,
Publication Date: 2014-04-03

Variant appearance in text: rs2758605
PubMed Link: 24656865
Variant Present in the following documents:
  • Main text
View BVdb publication page



Significant association between body composition phenotypes and the osteocalcin genomic region in normative human population.

Bone
Korostishevsky, Michael M; Malkin, Ida I; Trofimov, Svetlana S; Pei, Yufang Y; Deng, Hong-Wen HW; Livshits, Gregory G
Publication Date: 2012-10

Variant appearance in text: rs2758605
PubMed Link: 22842327
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

European Journal Of Human Genetics : Ejhg
Pomares, Esther E; Riera, Marina M; Permanyer, Jon J; Méndez, Pilar P; Castro-Navarro, Joaquín J; Andrés-Gutiérrez, Angeles A; Marfany, Gemma G; Gonzàlez-Duarte, Roser R
Publication Date: 2010-01

Variant appearance in text: rs2758605
PubMed Link: 19584904
Variant Present in the following documents:
  • Main text
View BVdb publication page