SCAMP5 c.-49+1708T>C

Variant ID: 15-75289722-T-C

NM_138967.4(SCAMP5):c.-49+1708T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Increased brain volume from higher cereal and lower coffee intake: shared genetic determinants and impacts on cognition and metabolism.

Cerebral Cortex (New York, N.Y. : 1991)
Kang, Jujiao J; Jia, Tianye T; Jiao, Zeyu Z; Shen, Chun C; Xie, Chao C; Cheng, Wei W; Sahakian, Barbara J BJ; Waxman, David D; Feng, Jianfeng J
Publication Date: 2022-11-09

Variant appearance in text: rs3812945
PubMed Link: 35136970
Variant Present in the following documents:
  • supplementary_materials_revised_submit_bhac005.pdf
View BVdb publication page



Data on genetic associations of carotid atherosclerosis markers in Mexican American and European American rheumatoid arthritis subjects.

Data In Brief
Arya, Rector R; Escalante, Agustin A; Farook, Vidya S VS; Restrepo, Jose F JF; Battafarano, Daniel F DF; Almeida, Marcio M; Kos, Mark Z MZ; Fourcaudot, Marcel J MJ; Mummidi, Srinivas S; Kumar, Satish S; Curran, Joanne E JE; Jenkinson, Christopher P CP; Blangero, John J; Duggirala, Ravindranath R; Del Rincon, Inmaculada I
Publication Date: 2018-04

Variant appearance in text: rs3812945
PubMed Link: 29527544
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.

Nature Genetics
Manjarrez-Orduño, Nataly N; Marasco, Emiliano E; Chung, Sharon A SA; Katz, Matthew S MS; Kiridly, Jenna F JF; Simpfendorfer, Kim R KR; Freudenberg, Jan J; Ballard, David H DH; Nashi, Emil E; Hopkins, Thomas J TJ; Cunninghame Graham, Deborah S DS; Lee, Annette T AT; Coenen, Marieke J H MJ; Franke, Barbara B; Swinkels, Dorine W DW; Graham, Robert R RR; Kimberly, Robert P RP; Gaffney, Patrick M PM; Vyse, Timothy J TJ; Behrens, Timothy W TW; Criswell, Lindsey A LA; Diamond, Betty B; Gregersen, Peter K PK
Publication Date: 2012-11

Variant appearance in text: rs3812945
PubMed Link: 23042117
Variant Present in the following documents:
  • NIHMS408117-supplement-1.pdf
View BVdb publication page