LDLR c.2312-1880T>C

Variant ID: 19-11236804-T-C

NM_000527.4(LDLR):c.2312-1880T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adaptation history in Southwest China.

Human Genomics
Wang, Jiawen J; Yang, Lin L; Duan, Shuhan S; Sun, Qiuxia Q; Li, Youjing Y; Wu, Jun J; Wu, Wenxin W; Wang, Zheng Z; Liu, Yan Y; Tang, Renkuan R; Yang, Junbao J; Liu, Chao C; Yuan, Buhong B; Wang, Daoyong D; Xu, Jianwei J; Wang, Mengge M; He, Guanglin G
Publication Date: 2023-01-31

Variant appearance in text: rs2738456
PubMed Link: 36721228
Variant Present in the following documents:
  • Main text
  • 40246_2023_Article_452.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2738456
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Identifying potentially common genes between dyslipidemia and osteoporosis using novel analytical approaches.

Molecular Genetics And Genomics : Mgg
Lin, Xu X; Peng, Cheng C; Greenbaum, Jonathan J; Li, Zhang-Fang ZF; Wu, Ke-Hao KH; Ao, Zeng-Xin ZX; Zhang, Tong T; Shen, Jie J; Deng, Hong-Wen HW
Publication Date: 2018-06

Variant appearance in text: rs2738456
PubMed Link: 29327327
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia Medical Journal
Dementieva, Yulia Y; Green, Todd L TL; Primerano, Donald A DA; Wei, Liping L; Denvir, James J; Wehner, Paulette P; Dodson, Sarah S; Flood, Mark R MR; Pollock, Bonnie A BA; Huff, Melinda M; Hill, Contessa C; Kreisberg, Robert R; Francis, Amanda A; Morrison, Katie K; Blackwood, Holly H; Davis, Mary M; Lee, Huey Miin HM; Warren, Stafford S; ,
Publication Date: 2012

Variant appearance in text: rs2738456
PubMed Link: 25134189
Variant Present in the following documents:
  • Main text
View BVdb publication page