PMID: 24036952

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature genetics

Seddon, Johanna M JM, Yu, Yi Y, Miller, Elizabeth C EC, Reynolds, Robyn R, Tan, Perciliz L PL, Gowrisankar, Sivakumar S, Goldstein, Jacqueline I JI, Triebwasser, Michael M, Anderson, Holly E HE, Zerbib, Jennyfer J, Kavanagh, David D, Souied, Eric E, Katsanis, Nicholas N, Daly, Mark J MJ, Atkinson, John P JP, Raychaudhuri, Soumya S

2013-11

20 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
4-110667561-T-G	CFI	c.1246A>C	p.I416L	Missense	11/13	-
4-110590479-G-A	MCUB	c.451+4929G>A	-	IntronicSNV	-	4/7
4-110590479-G-T	MCUB	c.451+4929G>T	-	IntronicSNV	-	4/7
4-110681732-G-C	CFI	c.719C>G	p.A240G	Missense	5/13	-
4-110667387-G-A	CFI	c.1420C>T	p.R474*	Nonsense	11/13	-
4-110687890-G-C	CFI	c.148C>G	p.P50A	Missense	2/13	-
1-196712596-A-T	CFH	c.3148A>T	p.N1050Y	Missense	20/22	-
4-110667431-T-G	CFI	c.1376A>C	p.Y459S	Missense	11/13	-
19-6718146-T-G	C3	c.463A>C	p.K155Q	Missense	4/41	-
5-39331894-G-A	C9	c.499C>T	p.P167S	Missense	5/11	-
4-110670750-G-A	CFI	c.949C>T	p.R317W	Missense	9/13	-
4-110681527-C-T	CFI	c.782G>A	p.G261D	Missense	6/13	-
4-110685820-C-T	CFI	c.355G>A	p.G119R	Missense	3/13	-
4-110670680-A-G	CFI	c.1019T>C	p.I340T	Missense	9/13	-
4-110662144-G-A	CFI	c.1657C>T	p.P553S	Missense	13/13	-
1-196965193-G-A	CFHR5	c.832G>A	p.G278S	Missense	6/10	-
1-196928188-A-G	CFHR2	c.791A>G	p.Y264C	Missense	5/5	-
4-110667600-C-T	CFI	c.1207G>A	p.D403N	Missense	11/13	-
4-110670416-T-G	CFI	c.1106A>C	p.Y369S	Missense	10/13	-
1-196679455-A-C	CFH	c.1337-3410A>C	-	IntronicSNV	-	9/21