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THBS1 c.-138T>C
Variant ID: 15-39873321-T-C
NM_003246.4(
THBS1
):c.-138T>C
This variant was identified in 16 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Nanotechnology Lighting the Way for Gene Therapy in Ophthalmopathy: From Opportunities toward Applications.
Molecules (Basel, Switzerland)
Ren, Weiming W; Duan, Suyang S; Dai, Chao C; Xie, Chunbao C; Jiang, Lingxi L; Shi, Yi Y
Publication Date: 2023-04-15
Variant appearance in text: rs1478604
PubMed Link:
37110734
Variant Present in the following documents:
Main text
molecules-28-03500.pdf
View BVdb publication page
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: rs1478604
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
Reduced tear thrombospondin-1/matrix metalloproteinase-9 ratio can aid in detecting Sjögren's syndrome etiology in patients with dry eye.
Clinical And Translational Science
Masli, Sharmila S; Akpek, Esen K EK
Publication Date: 2022-08
Variant appearance in text: rs1478604
PubMed Link:
35610740
Variant Present in the following documents:
Main text
CTS-15-1999.pdf
View BVdb publication page
THBS1 (thrombospondin-1).
Atlas Of Genetics And Cytogenetics In Oncology And Haematology
Isenberg, Jeffrey S JS; Roberts, David D DD
Publication Date: 2020
Variant appearance in text: rs1478604
PubMed Link:
33244322
Variant Present in the following documents:
Main text
View BVdb publication page
Increased cardiovascular mortality in females with the a/a genotype of the SNPs rs1478604 and rs2228262 of thrombospondin-1.
Bmc Medical Genetics
Alehagen, Urban U; Shamoun, Levar L; Wågsäter, Dick D
Publication Date: 2020-09-11
Variant appearance in text: rs1478604
PubMed Link:
32917134
Variant Present in the following documents:
Main text
12881_2020_Article_1118.pdf
View BVdb publication page
Evaluation of thrombospondin-1 gene polymorphisms in corneal allograft rejection in Asian Indian patients.
Indian Journal Of Ophthalmology
Vanathi, Murugesan M; Shukla, Rashmi R; Balakrishnan, Prahlad P; Dwivedi, Roopa R; Gupta, Noopur N; Tandon, Radhika R
Publication Date: 2020-04
Variant appearance in text: rs1478604
PubMed Link:
32174570
Variant Present in the following documents:
Main text
IJO-68-565.pdf
View BVdb publication page
Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.
Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11
Variant appearance in text: THBS1: -138T>C; rs1478604
PubMed Link:
32046637
Variant Present in the following documents:
12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
Thrombospondin-1 in ocular surface health and disease.
The Ocular Surface
Foulsham, William W; Dohlman, Thomas H TH; Mittal, Sharad K SK; Taketani, Yukako Y; Singh, Rohan Bir RB; Masli, Sharmila S; Dana, Reza R
Publication Date: 2019-07
Variant appearance in text: rs1478604
PubMed Link:
31173926
Variant Present in the following documents:
Main text
View BVdb publication page
Transcriptome‑wide piRNA profiling in human gastric cancer.
Oncology Reports
Lin, Xiandong X; Xia, Yan Y; Hu, Dan D; Mao, Qiao Q; Yu, Zongyang Z; Zhang, Hejun H; Li, Chao C; Chen, Gang G; Liu, Fen F; Zhu, Weifeng W; Shi, Yi Y; Zhang, Huihao H; Zheng, Jianming J; Sun, Tao T; Xu, Jianying J; Chao, Herta H HH; Zheng, Xiongwei X; Luο, Xingguang X
Publication Date: 2019-05
Variant appearance in text: rs1478604
PubMed Link:
30896887
Variant Present in the following documents:
or-41-05-3089.pdf
View BVdb publication page
Regulation of Cellular Redox Signaling by Matricellular Proteins in Vascular Biology, Immunology, and Cancer.
Antioxidants & Redox Signaling
Roberts, David D DD; Kaur, Sukhbir S; Isenberg, Jeffrey S JS
Publication Date: 2017-10-20
Variant appearance in text: rs1478604
PubMed Link:
28712304
Variant Present in the following documents:
Main text
View BVdb publication page
Thrombospondin-1 gene polymorphism is associated with estimated pulmonary artery pressure in patients with sickle cell anemia.
American Journal Of Hematology
Jacob, Seethal A SA; Novelli, Enrico M EM; Isenberg, Jeffrey S JS; Garrett, Melanie E ME; Chu, Yanxia Y; Soldano, Karen K; Ataga, Kenneth I KI; Telen, Marilyn J MJ; Ashley-Koch, Allison A; Gladwin, Mark T MT; Zhang, Yingze Y; Kato, Gregory J GJ
Publication Date: 2017-03
Variant appearance in text: rs1478604
PubMed Link:
28033687
Variant Present in the following documents:
Main text
View BVdb publication page
Association of THBS1 rs1478605 T>C in 5'-untranslated regions with the development and progression of gastric cancer.
Biomedical Reports
Hong, Bin-Bin BB; Chen, Shu-Qin SQ; Qi, Yuan-Lin YL; Zhu, Jin-Wei JW; Lin, Jian-Yin JY
Publication Date: 2015-03
Variant appearance in text: rs1478604
PubMed Link:
26075074
Variant Present in the following documents:
Main text
View BVdb publication page
Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.
Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20
Variant appearance in text: rs1478604
PubMed Link:
25944692
Variant Present in the following documents:
oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page
Polymorphism in THBS1 gene is associated with post-refractive surgery chronic ocular surface inflammation.
Ophthalmology
Contreras-Ruiz, Laura L; Ryan, Denise S DS; Sia, Rose K RK; Bower, Kraig S KS; Dartt, Darlene A DA; Masli, Sharmila S
Publication Date: 2014-07
Variant appearance in text: rs1478604
PubMed Link:
24679443
Variant Present in the following documents:
Main text
View BVdb publication page
Screening of key genes in gastric cancer with DNA microarray analysis.
European Journal Of Medical Research
Jin, Yong Y; Da, Wei W
Publication Date: 2013-10-04
Variant appearance in text: rs1478604
PubMed Link:
24093889
Variant Present in the following documents:
Main text
2047-783X-18-37.pdf
View BVdb publication page
The influence of genetics on response to treatment with ranibizumab (Lucentis) for age-related macular degeneration: the Lucentis Genotype Study (an American Ophthalmological Society thesis).
Transactions Of The American Ophthalmological Society
Francis, Peter James PJ
Publication Date: 2011-12
Variant appearance in text: rs1478604
PubMed Link:
22253485
Variant Present in the following documents:
Main text
View BVdb publication page