HTRA1 c.472+2304C>T

Variant ID: 10-124223944-C-T

NM_002775.4(HTRA1):c.472+2304C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism.

Bmc Genomics
Woo, Hyung Jun HJ; Yu, Chenggang C; Kumar, Kamal K; Gold, Bert B; Reifman, Jaques J
Publication Date: 2016-08-30

Variant appearance in text: rs2248799
PubMed Link: 27576376
Variant Present in the following documents:
  • Main text
  • 12864_2016_Article_2871.pdf
View BVdb publication page



Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.

Investigative Ophthalmology & Visual Science
Hughes, Anne E AE; Bridgett, Stephen S; Meng, Weihua W; Li, Mingyao M; Curcio, Christine A CA; Stambolian, Dwight D; Bradley, Declan T DT
Publication Date: 2016-05-01

Variant appearance in text: rs2248799
PubMed Link: 27196323
Variant Present in the following documents:
  • Main text
  • i1552-5783-57-6-2763.pdf
  • i1552-5783-57-6-2763-s2.pdf
View BVdb publication page



Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis.

Molecular Biology Reports
Yu, Weihong W; Dong, Shuqian S; Zhao, Chuntao C; Wang, Haina H; Dai, Fei F; Yang, Jingyun J
Publication Date: 2013-10

Variant appearance in text: rs2248799
PubMed Link: 24013816
Variant Present in the following documents:
  • Main text
View BVdb publication page



A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kanda, Atsuhiro A; Chen, Wei W; Othman, Mohammad M; Branham, Kari E H KE; Brooks, Matthew M; Khanna, Ritu R; He, Shirley S; Lyons, Robert R; Abecasis, Gonçalo R GR; Swaroop, Anand A
Publication Date: 2007-10-09

Variant appearance in text: rs2248799
PubMed Link: 17884985
Variant Present in the following documents:
  • Main text
View BVdb publication page