Variant ID: 1-55514956-G-A


This variant was identified in 2 publications


Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: 523+2637G>A; rs7517090
PMID: 21862702
View BVdb publication page

Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry.

Journal Of Lipid Research
I Miljkovic, LM Yerges-Armstrong, LH Kuller, AL Kuipers, X Wang, CM Kammerer, CS Nestlerode, CH Bunker, AL Patrick, VW Wheeler, RW Evans, JM Zmuda
Publication Date: 2010-07

Variant appearance in text: rs7517090
PMID: 20308432
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.523+2637G>A - intron_variant - 3/11
ENST00000452118.2 c.524-1909G>A - intron_variant - 3/5
ENST00000543384.1 c.-77-2995G>A - intron_variant - 1/9
NM_174936.4 c.523+2637G>A - intron_variant - 3/11
NR_110451.1 n.183-2995G>A - intron_variant,non_coding_transcript_variant - 1/9