VAX2 c.247+5016G>A

Variant ID: 2-71133014-G-A

NM_012476.2(VAX2):c.247+5016G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Differential Methylation of Telomere-Related Genes Is Associated with Kidney Disease in Individuals with Type 1 Diabetes.

Genes
Hill, Claire C; Duffy, Seamus S; Kettyle, Laura M LM; McGlynn, Liane L; Sandholm, Niina N; Salem, Rany M RM; Thompson, Alex A; Swan, Elizabeth J EJ; Kilner, Jill J; Rossing, Peter P; Shiels, Paul G PG; Lajer, Maria M; Groop, Per-Henrik PH; Maxwell, Alexander Peter AP; McKnight, Amy Jayne AJ; On Behalf Of The Genie Consortium,
Publication Date: 2023-04-30

Variant appearance in text: rs3771395
PubMed Link: 37239390
Variant Present in the following documents:
  • genes-14-01029.pdf
View BVdb publication page



New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.

Frontiers In Genetics
Kazmierczak de Camargo, João Paulo JP; Prezia, Giovanna Nazaré de Barros GNB; Shiokawa, Naoye N; Sato, Mario Teruo MT; Rosati, Roberto R; Beate Winter Boldt, Angelica A
Publication Date: 2022

Variant appearance in text: rs3771395
PubMed Link: 35656327
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Human Genetics
Li, Qing Q; Wojciechowski, Robert R; Simpson, Claire L CL; Hysi, Pirro G PG; Verhoeven, Virginie J M VJ; Ikram, Mohammad Kamran MK; Höhn, René R; Vitart, Veronique V; Hewitt, Alex W AW; Oexle, Konrad K; Mäkelä, Kari-Matti KM; MacGregor, Stuart S; Pirastu, Mario M; Fan, Qiao Q; Cheng, Ching-Yu CY; St Pourcain, Beaté B; McMahon, George G; Kemp, John P JP; Northstone, Kate K; Rahi, Jugnoo S JS; Cumberland, Phillippa M PM; Martin, Nicholas G NG; Sanfilippo, Paul G PG; Lu, Yi Y; Wang, Ya Xing YX; Hayward, Caroline C; Polašek, Ozren O; Campbell, Harry H; Bencic, Goran G; Wright, Alan F AF; Wedenoja, Juho J; Zeller, Tanja T; Schillert, Arne A; Mirshahi, Alireza A; Lackner, Karl K; Yip, Shea Ping SP; Yap, Maurice K H MK; Ried, Janina S JS; Gieger, Christian C; Murgia, Federico F; Wilson, James F JF; Fleck, Brian B; Yazar, Seyhan S; Vingerling, Johannes R JR; Hofman, Albert A; Uitterlinden, André A; Rivadeneira, Fernando F; Amin, Najaf N; Karssen, Lennart L; Oostra, Ben A BA; Zhou, Xin X; Teo, Yik-Ying YY; Tai, E Shyong ES; Vithana, Eranga E; Barathi, Veluchamy V; Zheng, Yingfeng Y; Siantar, Rosalynn Grace RG; Neelam, Kumari K; Shin, Youchan Y; Lam, Janice J; Yonova-Doing, Ekaterina E; Venturini, Cristina C; Hosseini, S Mohsen SM; Wong, Hoi-Suen HS; Lehtimäki, Terho T; Kähönen, Mika M; Raitakari, Olli O; Timpson, Nicholas J NJ; Evans, David M DM; Khor, Chiea-Chuen CC; Aung, Tin T; Young, Terri L TL; Mitchell, Paul P; Klein, Barbara B; van Duijn, Cornelia M CM; Meitinger, Thomas T; Jonas, Jost B JB; Baird, Paul N PN; Mackey, David A DA; Wong, Tien Yin TY; Saw, Seang-Mei SM; Pärssinen, Olavi O; Stambolian, Dwight D; Hammond, Christopher J CJ; Klaver, Caroline C W CC; Williams, Cathy C; Paterson, Andrew D AD; Bailey-Wilson, Joan E JE; Guggenheim, Jeremy A JA; ,
Publication Date: 2015-02

Variant appearance in text: rs3771395
PubMed Link: 25367360
Variant Present in the following documents:
  • Main text
  • 439_2014_Article_1500.pdf
View BVdb publication page



Identification of a candidate gene for astigmatism.

Investigative Ophthalmology & Visual Science
Lopes, Margarida C MC; Hysi, Pirro G PG; Verhoeven, Virginie J M VJ; Macgregor, Stuart S; Hewitt, Alex W AW; Montgomery, Grant W GW; Cumberland, Phillippa P; Vingerling, Johannes R JR; Young, Terri L TL; van Duijn, Cornelia M CM; Oostra, Ben B; Uitterlinden, Andre G AG; Rahi, Jugnoo S JS; Mackey, David A DA; Klaver, Caroline C W CC; Andrew, Toby T; Hammond, Christopher J CJ
Publication Date: 2013-02-01

Variant appearance in text: rs3771395
PubMed Link: 23322567
Variant Present in the following documents:
  • Main text
View BVdb publication page