SMAD3 c.206+17302C>T

Variant ID: 15-67376000-C-T

NM_005902.3(SMAD3):c.206+17302C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications
Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K
Publication Date: 2022-02-02

Variant appearance in text: rs4776881
PubMed Link: 35110524
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_28167.pdf
  • 41467_2022_28167_MOESM1_ESM.pdf
View BVdb publication page



Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications
Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K
Publication Date: 2022-02-02

Variant appearance in text: rs4776881
PubMed Link: 35110524
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_28167.pdf
  • 41467_2022_28167_MOESM1_ESM.pdf
View BVdb publication page



Genetic variation in the TGF-β signaling pathway and colon and rectal cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Slattery, Martha L ML; Herrick, Jennifer S JS; Lundgreen, Abbie A; Wolff, Roger K RK
Publication Date: 2011-01

Variant appearance in text: rs4776881
PubMed Link: 21068203
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease.

American Journal Of Respiratory And Critical Care Medicine
Roberts, Kari E KE; Fallon, Michael B MB; Krowka, Michael J MJ; Brown, Robert S RS; Trotter, James F JF; Peter, Inga I; Tighiouart, Hocine H; Knowles, James A JA; Rabinowitz, Daniel D; Benza, Raymond L RL; Badesch, David B DB; Taichman, Darren B DB; Horn, Evelyn M EM; Zacks, Steven S; Kaplowitz, Neil N; Kawut, Steven M SM; ,
Publication Date: 2009-05-01

Variant appearance in text: rs4776881
PubMed Link: 19218192
Variant Present in the following documents:
  • Main text
View BVdb publication page