PMID: 25205864

Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study.

Investigative ophthalmology & visual science
NA Restrepo, KL Spencer, R Goodloe, TA Garrett, G Heiss, P Bůžková, N Jorgensen, RA Jensen, TC Matise, LA Hindorff, BE Klein, R Klein, TY Wong, CY Cheng, BK Cornes, ES Tai, MD Ritchie, JL Haines, DC Crawford
2014-09-09

16 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-196651832-T-C CFH c.791-2362T>C - IntronicSNV - 6/21
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
4-110664630-T-C CFI c.1430-879A>G - IntronicSNV - 11/12
9-104362937-A-G GRIN3A c.2766+12721T>C - IntronicSNV - 6/8
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
10-124226630-G-T HTRA1 c.472+4990G>T - IntronicSNV - 1/8
10-124215315-T-G ARMS2 c.297+775T>G - IntronicSNV - 1/1
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
10-124226630-G-A HTRA1 c.472+4990G>A - IntronicSNV - 1/8
10-124231464-G-A HTRA1 c.472+9824G>A - IntronicSNV - 1/8
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
1-196686918-G-A CFH c.1696+2019G>A - IntronicSNV - 11/21
6-31910938-G-T C2 c.1360+62G>T - IntronicSNV - 10/17
10-124215421-C-T ARMS2 c.297+881C>T - IntronicSNV - 1/1
1-196709774-G-T CFH c.2808G>T p.Glu936Asp Missense 18/22 -