RRM2B c.48+1944A>G

Variant ID: 8-103249111-T-C

NM_015713.4(RRM2B):c.48+1944A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: rs11777942
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Genetics Modulate Gray Matter Variation Beyond Disease Burden in Prodromal Huntington's Disease.

Frontiers In Neurology
Liu, Jingyu J; Ciarochi, Jennifer J; Calhoun, Vince D VD; Paulsen, Jane S JS; Bockholt, H Jeremy HJ; Johnson, Hans J HJ; Long, Jeffrey D JD; Lin, Dongdong D; Espinoza, Flor A FA; Misiura, Maria B MB; Caprihan, Arvind A; Turner, Jessica A JA; ,
Publication Date: 2018

Variant appearance in text: rs11777942
PubMed Link: 29651271
Variant Present in the following documents:
  • Main text
  • fneur-09-00190.pdf
View BVdb publication page