RNPEPL1 c.529-937G>A

Variant ID: 2-241510903-G-A

NM_018226.4(RNPEPL1):c.529-937G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.

Elife
Chong, Michael M; Mohammadi-Shemirani, Pedrum P; Perrot, Nicolas N; Nelson, Walter W; Morton, Robert R; Narula, Sukrit S; Lali, Ricky R; Khan, Irfan I; Khan, Mohammad M; Judge, Conor C; Machipisa, Tafadzwa T; Cawte, Nathan N; O'Donnell, Martin M; Pigeyre, Marie M; Akhabir, Loubna L; Paré, Guillaume G
Publication Date: 2022-01-13

Variant appearance in text: rs78909033
PubMed Link: 35023831
Variant Present in the following documents:
  • elife-70382-supp2.xlsx, sheet 2
  • elife-70382-supp2.xlsx, sheet 5
  • elife-70382-supp2.xlsx, sheet 1
View BVdb publication page



Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Publication Date: 2022-01

Variant appearance in text: rs78909033
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Genetically Determined Platelet Count and Risk of Cardiovascular Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Gill, Dipender D; Monori, Grace G; Georgakis, Marios K MK; Tzoulaki, Ioanna I; Laffan, Mike M
Publication Date: 2018-12

Variant appearance in text: rs78909033
PubMed Link: 30571169
Variant Present in the following documents:
  • atv-38-2862-s001.pdf
View BVdb publication page