SMAD3 c.*1245G>A

Variant ID: 15-67484119-G-A

NM_005902.3(SMAD3):c.*1245G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The Relationship Between Single Nucleotide Polymorphisms of SMAD3/SMAD6 and Risk of Esophageal Squamous Cell Carcinoma in Chinese Population.

Pharmacogenomics And Personalized Medicine
Yu, Jinjie J; Dong, Yunpeng Y; Tang, Weifeng W; Pan, Huiwen H; Lv, Lu L; Long, Tao T; Zhou, Qiang Q; Qi, Junqing J; Liu, Jianchao J; Ding, Guowen G; Yin, Jun J; Tan, Lijie L
Publication Date: 2020

Variant appearance in text: rs8031627
PubMed Link: 32904644
Variant Present in the following documents:
  • Main text
  • pgpm-13-355.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: rs8031627
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs8031627
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Dense genotyping of immune-related loci identifies variants associated with clearance of HPV among HIV-positive women in the HIV epidemiology research study (HERS).

Plos One
Sudenga, Staci L SL; Wiener, Howard W HW; King, Caroline C CC; Rompalo, Anne M AM; Cu-Uvin, Susan S; Klein, Robert S RS; Shah, Keerti V KV; Sobel, Jack D JD; Jamieson, Denise J DJ; Shrestha, Sadeep S
Publication Date: 2014

Variant appearance in text: rs8031627
PubMed Link: 24918582
Variant Present in the following documents:
  • Main text
  • pone.0099109.pdf
View BVdb publication page



Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome.

Osteoarthritis And Cartilage
Raine, E V A EV; Reynard, L N LN; van de Laar, I M B H IM; Bertoli-Avella, A M AM; Loughlin, J J
Publication Date: 2014-05

Variant appearance in text: rs8031627
PubMed Link: 24583347
Variant Present in the following documents:
  • Main text
View BVdb publication page