SMAD3 c.206+6924A>G

Variant ID: 15-67365622-A-G

NM_005902.3(SMAD3):c.206+6924A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus.

Human Molecular Genetics
Hackinger, Sophie S; Trajanoska, Katerina K; Styrkarsdottir, Unnur U; Zengini, Eleni E; Steinberg, Julia J; Ritchie, Graham R S GRS; Hatzikotoulas, Konstantinos K; Gilly, Arthur A; Evangelou, Evangelos E; Kemp, John P JP; , ; Evans, David D; Ingvarsson, Thorvaldur T; Jonsson, Helgi H; Thorsteinsdottir, Unnur U; Stefansson, Kari K; McCaskie, Andrew W AW; Brooks, Roger A RA; Wilkinson, Jeremy M JM; Rivadeneira, Fernando F; Zeggini, Eleftheria E
Publication Date: 2017-10-01

Variant appearance in text: rs10518707
PubMed Link: 28934396
Variant Present in the following documents:
  • Main text
  • ddx285.pdf
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: rs10518707
PubMed Link: 20401335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

American Journal Of Human Genetics
El-Sayed, Walid W; Parry, David A DA; Shore, Roger C RC; Ahmed, Mushtaq M; Jafri, Hussain H; Rashid, Yasmin Y; Al-Bahlani, Suhaila S; Al Harasi, Sharifa S; Kirkham, Jennifer J; Inglehearn, Chris F CF; Mighell, Alan J AJ
Publication Date: 2009-11

Variant appearance in text: rs10518707
PubMed Link: 19853237
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page