Variant ID: 8-108342263-A-T

NM_001146.3(ANGPT1):c.575+6115T>A

This variant was identified in 3 publications




Publications:


Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.

Plos One
OY Gorlova, Y Li, I Gorlov, J Ying, WV Chen, S Assassi, JD Reveille, FC Arnett, X Zhou, L Bossini-Castillo, E Lopez-Isac, M Acosta-Herrera, PK Gregersen, AT Lee, VD Steen, BJ Fessler, D Khanna, E Schiopu, RM Silver, JA Molitor, DE Furst, S Kafaja, RW Simms, RA Lafyatis, P Carreira, CP Simeon, I Castellvi, E Beltran, N Ortego, CI Amos, J Martin, MD Mayes
Publication Date: 2018

Variant appearance in text: rs4262299
PubMed Link: 29293537
PubMed Central Link
Variant Present in the following documents:
  • pone.0189498.s011.xlsx
View BVdb publication page



Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients.

Plos One
I Makhoul, VK Todorova, ER Siegel, SW Erickson, I Dhakal, VR Raj, JY Lee, MS Orloff, RJ Griffin, RS Henry-Tillman, S Klimberg, LF Hutchins, SA Kadlubar
Publication Date: 2017

Variant appearance in text: rs4262299
PubMed Link: 28045923
PubMed Central Link
Variant Present in the following documents:
  • pone.0168550.s006.xlsx
  • pone.0168550.s005.xlsx
  • pone.0168550.s007.xlsx
View BVdb publication page



Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Nature Genetics
JN Bailey, SJ Loomis, JH Kang, RR Allingham, P Gharahkhani, CC Khor, KP Burdon, H Aschard, DI Chasman, RP Igo, PG Hysi, CA Glastonbury, A Ashley-Koch, M Brilliant, AA Brown, DL Budenz, A Buil, CY Cheng, H Choi, WG Christen, G Curhan, I De Vivo, JH Fingert, PJ Foster, C Fuchs, D Gaasterland, T Gaasterland, AW Hewitt, F Hu, DJ Hunter, AP Khawaja, RK Lee, Z Li, PR Lichter, DA Mackey, P McGuffin, P Mitchell, SE Moroi, SA Perera, KW Pepper, Q Qi, T Realini, JE Richards, PM Ridker, E Rimm, R Ritch, M Ritchie, JS Schuman, WK Scott, K Singh, AJ Sit, YE Song, RM Tamimi, F Topouzis, AC Viswanathan, SS Verma, D Vollrath, JJ Wang, N Weisschuh, B Wissinger, G Wollstein, TY Wong, BL Yaspan, DJ Zack, K Zhang, EN Study, , RN Weinreb, MA Pericak-Vance, K Small, CJ Hammond, T Aung, Y Liu, EN Vithana, S MacGregor, JE Craig, P Kraft, G Howell, MA Hauser, LR Pasquale, JL Haines, JL Wiggs
Publication Date: 2016-02

Variant appearance in text: rs4262299
PubMed Link: 26752265
PubMed Central Link
Variant Present in the following documents:
  • NIHMS744052-supplement-2.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000297450.3 c.575+6115T>A - intron_variant - 3/8
ENST00000517746.1 c.575+6115T>A - intron_variant - 3/8
ENST00000520052.1 c.-26+6115T>A - intron_variant - 2/7
ENST00000520734.1 c.-26+6115T>A - intron_variant - 2/7
NM_001146.5 c.575+6115T>A - intron_variant - 3/8
NM_001199859.3 c.575+6115T>A - intron_variant - 3/8
NM_001314051.1 c.-26+6115T>A - intron_variant - 2/7