METAP1 c.166+2641A>G

Variant ID: 4-99952710-A-G

NM_015143.2(METAP1):c.166+2641A>G

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.

Nature Communications
Sliz, Eeva E; Tyrmi, Jaakko S JS; Rahmioglu, Nilufer N; Zondervan, Krina T KT; Becker, Christian M CM; , ; Uimari, Outi O; Kettunen, Johannes J
Publication Date: 2023-02-01

Variant appearance in text: rs1037475
PubMed Link: 36726022
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_35974.pdf
View BVdb publication page



Machine Learning for the Identification of a Common Signature for Anti-SSA/Ro 60 Antibody Expression Across Autoimmune Diseases.

Arthritis & Rheumatology (Hoboken, N.J.)
Foulquier, Nathan N; Le Dantec, Christelle C; Bettacchioli, Eleonore E; Jamin, Christophe C; Alarcón-Riquelme, Marta E ME; Pers, Jacques-Olivier JO
Publication Date: 2022-10

Variant appearance in text: rs1037475
PubMed Link: 35635731
Variant Present in the following documents:
  • ART-74-1706-s013.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs1037475
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: rs1037475
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: METAP1: 166+2641A>G; rs1037475
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of sporadic brain arteriovenous malformations.

Journal Of Neurology, Neurosurgery, And Psychiatry
Weinsheimer, Shantel S; Bendjilali, Nasrine N; Nelson, Jeffrey J; Guo, Diana E DE; Zaroff, Jonathan G JG; Sidney, Stephen S; McCulloch, Charles E CE; Al-Shahi Salman, Rustam R; Berg, Jonathan N JN; Koeleman, Bobby P C BP; Simon, Matthias M; Bostroem, Azize A; Fontanella, Marco M; Sturiale, Carmelo L CL; Pola, Roberto R; Puca, Alfredo A; Lawton, Michael T MT; Young, William L WL; Pawlikowska, Ludmila L; Klijn, Catharina J M CJ; Kim, Helen H; ,
Publication Date: 2016-09

Variant appearance in text: rs1037475
PubMed Link: 26818729
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs1037475
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Selection of single-nucleotide polymorphisms in disease association data.

Bmc Genetics
Joo, Jungnam J; Tian, Xin X; Zheng, Gang G; Lin, Jing-Ping JP; Geller, Nancy L NL
Publication Date: 2005-12-30

Variant appearance in text: rs1037475
PubMed Link: 16451709
Variant Present in the following documents:
  • Main text
  • 1471-2156-6-S1-S93.pdf
View BVdb publication page



A new family-based association test via a least-squares method.

Bmc Genetics
Yang, Song S; Joo, Jungnam J; Feng, Ziding Z; Lin, Jing-Ping JP
Publication Date: 2005-12-30

Variant appearance in text: rs1037475
PubMed Link: 16451567
Variant Present in the following documents:
  • Main text
View BVdb publication page



Robust trend tests for genetic association in case-control studies using family data.

Bmc Genetics
Tian, Xin X; Joo, Jungnam J; Zheng, Gang G; Lin, Jing-Ping JP
Publication Date: 2005-12-30

Variant appearance in text: rs1037475
PubMed Link: 16451563
Variant Present in the following documents:
  • Main text
View BVdb publication page