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LDLR c.2312-912A>G
Variant ID: 19-11237772-A-G
NM_000527.4(
LDLR
):c.2312-912A>G
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.
Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31
Variant appearance in text: rs2569542
PubMed Link:
34575654
Variant Present in the following documents:
Main text
jpm-11-00877.pdf
View BVdb publication page
Relationship between the rs2596542 polymorphism in the MICA gene promoter and HBV/HCV infection-induced hepatocellular carcinoma: a meta-analysis.
Bmc Medical Genetics
Luo, Xiaojun X; Wang, Yu Y; Shen, Ai A; Deng, Hejun H; Ye, Min M
Publication Date: 2019-08-16
Variant appearance in text: rs2569542
PubMed Link:
31419949
Variant Present in the following documents:
Main text
12881_2019_Article_871.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: rs2569542
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism.
Bmc Gastroenterology
Harada, Rie R; Kimura, Masako M; Sato, Yasushi Y; Taniguchi, Tatsuya T; Tomonari, Tetsu T; Tanaka, Takahiro T; Tanaka, Hironori H; Muguruma, Naoki N; Shinomiya, Hirohiko H; Honda, Hirohito H; Imoto, Issei I; Sogabe, Masahiro M; Okahisa, Toshiya T; Takayama, Tetsuji T
Publication Date: 2018-01-30
Variant appearance in text: rs2569542
PubMed Link:
29382324
Variant Present in the following documents:
Main text
12876_2018_Article_747.pdf
View BVdb publication page