Publications:

Lifestage Sex-Specific Genetic Effects on Metabolic Disorders in an Adult Population in Korea: The Korean Genome and Epidemiology Study.

International Journal Of Molecular Sciences

Kim, Young-Sang YS; Park, Yon Chul YC; Choi, Ja-Eun JE; Park, Jae-Min JM; Han, Kunhee K; Kim, Kwangyoon K; Kim, Bom-Taeck BT; Hong, Kyung-Won KW

Publication Date: 2022-10-06

Variant appearance in text: rs17244834

PubMed Link: 36233190

Variant Present in the following documents:

• Main text
• ijms-23-11889.pdf

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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: rs17244834

PubMed Link: 32591531

Variant Present in the following documents:

• 41467_2020_16969_MOESM1_ESM.pdf

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: HMGCR: 451-181A>T; rs17244834

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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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: rs17244834

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page