LDLR c.1706-69G>A

Variant ID: 19-11227466-G-A

NM_000527.4(LDLR):c.1706-69G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs7259278
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: rs7259278
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene
Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M
Publication Date: 2014-12

Variant appearance in text: rs7259278
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics
Al-Khateeb, Alyaa A; Zahri, Mohd K MK; Mohamed, Mohd S MS; Sasongko, Teguh H TH; Ibrahim, Suhairi S; Yusof, Zurkurnai Z; Zilfalil, Bin A BA
Publication Date: 2011-03-19

Variant appearance in text: rs7259278
PubMed Link: 21418584
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-40.pdf
View BVdb publication page