PMID: 25414277

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical chemistry

M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M Waluś-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries

2015-01

18 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
7-44579180-G-C	NPC1L1	c.816C>G	p.Leu272Leu	Synonymous	2/20	-
7-44579180-G-A	NPC1L1	c.816C>T	p.Leu272Leu	Synonymous	2/20	-
1-63025942-G-T	DOCK7	c.2200-1051C>A	-	IntronicSNV	-	19/48
14-24883887-G-A	NYNRIN	c.2932G>A	p.Ala978Thr	Missense	9/9	-
2-44074000-G-A	ABCG8	c.322+550G>A	-	IntronicSNV	-	3/12
2-44072576-G-T	ABCG8	c.166-718G>T	-	IntronicSNV	-	2/12
11-126243952-G-A	ST3GAL4	c.-61+17755G>A	-	intron_variant	-	1/10
10-113933886-A-T	GPAM	c.414-283T>A	-	IntronicSNV	-	6/21
1-55523127-G-T	PCSK9	c.1120G>T	p.Asp374Tyr	Missense	7/12	-
10-113933886-A-G	GPAM	c.414-283T>C	-	IntronicSNV	-	6/21
2-44073881-T-C	ABCG8	c.322+431T>C	-	IntronicSNV	-	3/12
6-32412435-G-A	HLA-DRA	c.*18G>A	-	3_prime_UTR_variant	5/5	-
19-11227602-C-T	LDLR	c.1773C>T	p.Asn591Asn	Synonymous	12/18	-
19-11224265-A-G	LDLR	c.1413A>G	p.Arg471Arg	Synonymous	10/18	-
1-220973563-C-T	MARC1	c.753+2207C>T	-	IntronicSNV	-	4/6
6-160578860-T-C	SLC22A1	c.1599-688T>C	-	IntronicSNV	-	10/10
2-21229160-C-T	APOB	c.10580G>A	p.Arg3527Gln	Missense	26/29	-
2-44072576-G-C	ABCG8	c.166-718G>C	-	IntronicSNV	-	2/12