GALNT2 c.127-18657C>A

Variant ID: 1-230295307-C-A

NM_004481.3(GALNT2):c.127-18657C>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs17315646
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Plos One
Howard, Alicia D AD; Wang, Xiaochun X; Prasad, Megana M; Sahu, Avinash Das AD; Aniba, Radhouane R; Miller, Michael M; Hannenhalli, Sridhar S; Chang, Yen-Pei Christy YC
Publication Date: 2019

Variant appearance in text: rs17315646
PubMed Link: 31039173
Variant Present in the following documents:
  • Main text
  • pone.0215911.pdf
View BVdb publication page



Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol.

American Journal Of Human Genetics
Roman, Tamara S TS; Marvelle, Amanda F AF; Fogarty, Marie P MP; Vadlamudi, Swarooparani S; Gonzalez, Arlene J AJ; Buchkovich, Martin L ML; Huyghe, Jeroen R JR; Fuchsberger, Christian C; Jackson, Anne U AU; Wu, Ying Y; Civelek, Mete M; Lusis, Aldons J AJ; Gaulton, Kyle J KJ; Sethupathy, Praveen P; Kangas, Antti J AJ; Soininen, Pasi P; Ala-Korpela, Mika M; Kuusisto, Johanna J; Collins, Francis S FS; Laakso, Markku M; Boehnke, Michael M; Mohlke, Karen L KL
Publication Date: 2015-12-03

Variant appearance in text: rs17315646
PubMed Link: 26637976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: rs17315646
PubMed Link: 23555291
Variant Present in the following documents:
  • pgen.1003379.s009.pdf
View BVdb publication page