CERS4 c.-2+5889G>A

Variant ID: 19-8281635-G-A

NM_024552.3(CERS4):c.-2+5889G>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.

American Journal Of Human Genetics
Bomba, Lorenzo L; Walter, Klaudia K; Guo, Qi Q; Surendran, Praveen P; Kundu, Kousik K; Nongmaithem, Suraj S; Karim, Mohd Anisul MA; Stewart, Isobel D ID; Langenberg, Claudia C; Danesh, John J; Di Angelantonio, Emanuele E; Roberts, David J DJ; Ouwehand, Willem H WH; , ; Dunham, Ian I; Butterworth, Adam S AS; Soranzo, Nicole N
Publication Date: 2022-06-02

Variant appearance in text: rs2100944
PubMed Link: 35568032
Variant Present in the following documents:
  • mmc1.pdf
  • mmc12.pdf
View BVdb publication page



Diminished Sphingolipid Metabolism, a Hallmark of Future Type 2 Diabetes Pathogenesis, Is Linked to Pancreatic β Cell Dysfunction.

Iscience
Khan, Saifur R SR; Manialawy, Yousef Y; Obersterescu, Andreea A; Cox, Brian J BJ; Gunderson, Erica P EP; Wheeler, Michael B MB
Publication Date: 2020-10-23

Variant appearance in text: rs2100944
PubMed Link: 33103069
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genes and Dietary Fatty Acids in Regulation of Fatty Acid Composition of Plasma and Erythrocyte Membranes.

Nutrients
Lankinen, Maria M; Uusitupa, Matti M; Schwab, Ursula U
Publication Date: 2018-11-16

Variant appearance in text: rs2100944
PubMed Link: 30453550
Variant Present in the following documents:
  • Main text
  • nutrients-10-01785.pdf
View BVdb publication page



Identification of Novel Genetic Determinants of Erythrocyte Membrane Fatty Acid Composition among Greenlanders.

Plos Genetics
Andersen, Mette Korre MK; Jørsboe, Emil E; Sandholt, Camilla Helene CH; Grarup, Niels N; Jørgensen, Marit Eika ME; Færgeman, Nils Joakim NJ; Bjerregaard, Peter P; Pedersen, Oluf O; Moltke, Ida I; Hansen, Torben T; Albrechtsen, Anders A
Publication Date: 2016-06

Variant appearance in text: rs2100944
PubMed Link: 27341449
Variant Present in the following documents:
  • Main text
  • pgen.1006119.pdf
View BVdb publication page



Meta-analysis of genome-wide association studies identifies three novel loci for saturated fatty acids in East Asians.

European Journal Of Nutrition
Zhu, Jingwen J; Manichaikul, Ani A; Hu, Yao Y; Chen, Yii-Der I YI; Liang, Shuang S; Steffen, Lyn M LM; Rich, Stephen S SS; Tsai, Michael M; Siscovick, David S DS; Lemaitre, Rozenn N RN; Li, Huaixing H; Lin, Xu X
Publication Date: 2017-06

Variant appearance in text: rs2100944
PubMed Link: 26932504
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic loci associated with circulating levels of very long-chain saturated fatty acids.

Journal Of Lipid Research
Lemaitre, Rozenn N RN; King, Irena B IB; Kabagambe, Edmond K EK; Wu, Jason H Y JH; McKnight, Barbara B; Manichaikul, Ani A; Guan, Weihua W; Sun, Qi Q; Chasman, Daniel I DI; Foy, Millennia M; Wang, Lu L; Zhu, Jingwen J; Siscovick, David S DS; Tsai, Michael Y MY; Arnett, Donna K DK; Psaty, Bruce M BM; Djousse, Luc L; Chen, Yii-Der I YD; Tang, Weihong W; Weng, Lu-Chen LC; Wu, Hongyu H; Jensen, Majken K MK; Chu, Audrey Y AY; Jacobs, David R DR; Rich, Stephen S SS; Mozaffarian, Dariush D; Steffen, Lyn L; Rimm, Eric B EB; Hu, Frank B FB; Ridker, Paul M PM; Fornage, Myriam M; Friedlander, Yechiel Y
Publication Date: 2015-01

Variant appearance in text: rs2100944
PubMed Link: 25378659
Variant Present in the following documents:
  • Main text
  • 176.pdf
View BVdb publication page