PMID: 32068819

Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.

JAMA
J Yarmolinsky, CJ Bull, EE Vincent, J Robinson, A Walther, GD Smith, SJ Lewis, CL Relton, RM Martin
2020-02-18

19 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-74697050-T-G COL4A3BP c.1018-928A>C - IntronicSNV - 9/17
1-55524116-C-A PCSK9 c.1355-56C>A - IntronicSNV - 8/11
1-55524116-C-G PCSK9 c.1355-56C>G - IntronicSNV - 8/11
1-55517344-C-G PCSK9 c.524-607C>G - IntronicSNV - 3/11
1-55516004-C-A PCSK9 c.524-1947C>A - IntronicSNV - 3/11
1-55517344-C-T PCSK9 c.524-607C>T - IntronicSNV - 3/11
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
5-74641560-G-A HMGCR c.450+77G>A - IntronicSNV - 5/19
1-55551718-G-A USP24 c.6669-7C>T - IntronicSNV - 55/67
1-55551718-G-C USP24 c.6669-7C>G - IntronicSNV - 55/67
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
1-55528629-G-A PCSK9 c.1864-413G>A - IntronicSNV - 11/11
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
1-55524116-C-T PCSK9 c.1355-56C>T - IntronicSNV - 8/11
1-55518467-A-G PCSK9 c.799+3A>G - IntronicSNV - 5/11
1-55538552-T-G USP24 c.7527-18A>C - IntronicSNV - 64/67
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
5-74639722-C-T HMGCR c.210C>T p.Cys70Cys Synonymous 3/20 -