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MVK c.227-1048G>A
Variant ID: 12-110016559-G-A
NM_000431.2(
MVK
):c.227-1048G>A
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.
Lipids In Health And Disease
Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V
Publication Date: 2017-06-02
Variant appearance in text: rs4766613
PubMed Link:
28577571
Variant Present in the following documents:
Main text
12944_2017_Article_488.pdf
View BVdb publication page
Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.
Circulation. Cardiovascular Genetics
Chasman, Daniel I DI; Paré, Guillaume G; Zee, Robert Y L RY; Parker, Alex N AN; Cook, Nancy R NR; Buring, Julie E JE; Kwiatkowski, David J DJ; Rose, Lynda M LM; Smith, Joshua D JD; Williams, Paul T PT; Rieder, Mark J MJ; Rotter, Jerome I JI; Nickerson, Deborah A DA; Krauss, Ronald M RM; Miletich, Joseph P JP; Ridker, Paul M PM
Publication Date: 2008-10
Variant appearance in text: rs4766613
PubMed Link:
19802338
Variant Present in the following documents:
Main text
View BVdb publication page