PMF1-BGLAP c.267+424C>T

Variant ID: 1-156202640-C-T

NM_001199662.1(PMF1-BGLAP):c.267+424C>T

This variant was identified in 3 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: rs2736609
PubMed Link: 33657282
Variant Present in the following documents:
  • ACEL-20-e13323-s014.xlsx, sheet 1
View BVdb publication page



Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; Handsaker, Robert E RE; Finucane, Hilary K HK; Reshef, Yakir A YA; Palamara, Pier Francesco PF; Birmann, Brenda M BM; Talkowski, Michael E ME; Bakhoum, Samuel F SF; McCarroll, Steven A SA; Price, Alkes L AL
Publication Date: 2018-07

Variant appearance in text: rs2736609
PubMed Link: 29995854
Variant Present in the following documents:
  • NIHMS968664-supplement-Supplementary_Notes_and_Tables.pdf
View BVdb publication page



Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility.

Nature Genetics
Wright, Daniel J DJ; Day, Felix R FR; Kerrison, Nicola D ND; Zink, Florian F; Cardona, Alexia A; Sulem, Patrick P; Thompson, Deborah J DJ; Sigurjonsdottir, Svanhvit S; Gudbjartsson, Daniel F DF; Helgason, Agnar A; Chapman, J Ross JR; Jackson, Steve P SP; Langenberg, Claudia C; Wareham, Nicholas J NJ; Scott, Robert A RA; Thorsteindottir, Unnur U; Ong, Ken K KK; Stefansson, Kari K; Perry, John R B JRB
Publication Date: 2017-05

Variant appearance in text: rs2736609
PubMed Link: 28346444
Variant Present in the following documents:
  • Main text
View BVdb publication page