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