ANKS1A c.2011-17057C>T

Variant ID: 6-35004819-C-T

NM_015245.2(ANKS1A):c.2011-17057C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.

Frontiers In Physiology
Broekema, Marjoleine F MF; Massink, Maarten P G MPG; De Ligt, Joep J; Stigter, Edwin C A ECA; Monajemi, Houshang H; De Ridder, Jeroen J; Burgering, Boudewijn M T BMT; van Haaften, Gijs W GW; Kalkhoven, Eric E
Publication Date: 2018

Variant appearance in text: rs12525532
PubMed Link: 30319454
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



An adult-based insulin resistance genetic risk score associates with insulin resistance, metabolic traits and altered fat distribution in Danish children and adolescents who are overweight or obese.

Diabetologia
Graae, Anne-Sofie AS; Hollensted, Mette M; Kloppenborg, Julie T JT; Mahendran, Yuvaraj Y; Schnurr, Theresia M TM; Appel, Emil Vincent R EVR; Rask, Johanne J; Nielsen, Tenna R H TRH; Johansen, Mia Ø MØ; Linneberg, Allan A; Jørgensen, Marit E ME; Grarup, Niels N; Kadarmideen, Haja N HN; Holst, Birgitte B; Pedersen, Oluf O; Holm, Jens-Christian JC; Hansen, Torben T
Publication Date: 2018-08

Variant appearance in text: rs12525532
PubMed Link: 29855666
Variant Present in the following documents:
  • 125_2018_4640_MOESM1_ESM.pdf
  • 125_2018_Article_4640.pdf
View BVdb publication page



DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.

Annals Of The Rheumatic Diseases
Imgenberg-Kreuz, Juliana J; Carlsson Almlöf, Jonas J; Leonard, Dag D; Alexsson, Andrei A; Nordmark, Gunnel G; Eloranta, Maija-Leena ML; Rantapää-Dahlqvist, Solbritt S; Bengtsson, Anders A AA; Jönsen, Andreas A; Padyukov, Leonid L; Gunnarsson, Iva I; Svenungsson, Elisabet E; Sjöwall, Christopher C; Rönnblom, Lars L; Syvänen, Ann-Christine AC; Sandling, Johanna K JK
Publication Date: 2018-05

Variant appearance in text: rs12525532
PubMed Link: 29437559
Variant Present in the following documents:
  • annrheumdis-2017-212379supp016.pdf
View BVdb publication page