CIT c.5072-802C>T

Variant ID: 12-120146925-G-A

NM_001206999.1(CIT):c.5072-802C>T

This variant was identified in 7 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: rs11064881
PubMed Link: 35023831
Variant Present in the following documents:
  • Main text
  • elife-70382-supp2.xlsx, sheet 5
  • elife-70382.pdf
  • 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: rs11064881
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Nuclear genome-wide associations with mitochondrial heteroplasmy.

Science Advances
Nandakumar, Priyanka P; Tian, Chao C; O'Connell, Jared J; , ; Hinds, David D; Paterson, Andrew D AD; Sondheimer, Neal N
Publication Date: 2021-03

Variant appearance in text: rs11064881
PubMed Link: 33731350
Variant Present in the following documents:
  • Main text
  • abe7520.pdf
View BVdb publication page



Nuclear genome-wide associations with mitochondrial heteroplasmy.

Science Advances
Nandakumar, Priyanka P; Tian, Chao C; O'Connell, Jared J; , ; Hinds, David D; Paterson, Andrew D AD; Sondheimer, Neal N
Publication Date: 2021-03

Variant appearance in text: rs11064881
PubMed Link: 33731350
Variant Present in the following documents:
  • Main text
  • abe7520.pdf
View BVdb publication page



Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

Expert Review Of Clinical Immunology
Ye, Byong Duk BD; McGovern, Dermot P B DP
Publication Date: 2016-10

Variant appearance in text: rs11064881
PubMed Link: 27156530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Inflammatory Bowel Diseases.

Gastroenterology
McGovern, Dermot P B DP; Kugathasan, Subra S; Cho, Judy H JH
Publication Date: 2015-10

Variant appearance in text: rs11064881
PubMed Link: 26255561
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

Nature Genetics
Liu, Jimmy Z JZ; van Sommeren, Suzanne S; Huang, Hailiang H; Ng, Siew C SC; Alberts, Rudi R; Takahashi, Atsushi A; Ripke, Stephan S; Lee, James C JC; Jostins, Luke L; Shah, Tejas T; Abedian, Shifteh S; Cheon, Jae Hee JH; Cho, Judy J; Dayani, Naser E NE; Franke, Lude L; Fuyuno, Yuta Y; Hart, Ailsa A; Juyal, Ramesh C RC; Juyal, Garima G; Kim, Won Ho WH; Morris, Andrew P AP; Poustchi, Hossein H; Newman, William G WG; Midha, Vandana V; Orchard, Timothy R TR; Vahedi, Homayon H; Sood, Ajit A; Sung, Joseph Y JY; Malekzadeh, Reza R; Westra, Harm-Jan HJ; Yamazaki, Keiko K; Yang, Suk-Kyun SK; , ; , ; Barrett, Jeffrey C JC; Alizadeh, Behrooz Z BZ; Parkes, Miles M; Bk, Thelma T; Daly, Mark J MJ; Kubo, Michiaki M; Anderson, Carl A CA; Weersma, Rinse K RK
Publication Date: 2015-09

Variant appearance in text: rs11064881
PubMed Link: 26192919
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci.

Plos One
Mirza, Aashiq H AH; Kaur, Simranjeet S; Brorsson, Caroline A CA; Pociot, Flemming F
Publication Date: 2014

Variant appearance in text: rs11064881
PubMed Link: 25144376
Variant Present in the following documents:
  • pone.0105723.s013.xlsx, sheet 2
View BVdb publication page