GALNT2 c.220+234A>G

Variant ID: 1-230314291-A-G

NM_004481.3(GALNT2):c.220+234A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: GALNT2: 220+234A>G
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements.

Nature Communications
Allum, Fiona F; Hedman, Åsa K ÅK; Shao, Xiaojian X; Cheung, Warren A WA; Vijay, Jinchu J; Guénard, Frédéric F; Kwan, Tony T; Simon, Marie-Michelle MM; Ge, Bing B; Moura, Cristiano C; Boulier, Elodie E; Rönnblom, Lars L; Bernatsky, Sasha S; Lathrop, Mark M; McCarthy, Mark I MI; Deloukas, Panos P; Tchernof, André A; Pastinen, Tomi T; Vohl, Marie-Claude MC; Grundberg, Elin E
Publication Date: 2019-03-14

Variant appearance in text: rs2748115
PubMed Link: 30872577
Variant Present in the following documents:
  • 41467_2019_Article_9184.pdf
View BVdb publication page