HMGCR c.1369-222C>G

Variant ID: 5-74650106-C-G

NM_000859.2(HMGCR):c.1369-222C>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic drug target validation using Mendelian randomisation.

Nature Communications
Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD
Publication Date: 2020-06-26

Variant appearance in text: rs17648121
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.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: rs17648121
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page