MADD c.4378-122T>C

Variant ID: 11-47345100-T-C

NM_003682.3(MADD):c.4378-122T>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Bioinformatic Prioritization and Functional Annotation of GWAS-Based Candidate Genes for Primary Open-Angle Glaucoma.

Genes
Asefa, Nigus G NG; Kamali, Zoha Z; Pereira, Satyajit S; Vaez, Ahmad A; Jansonius, Nomdo N; Bergen, Arthur A AA; Snieder, Harold H
Publication Date: 2022-06-13

Variant appearance in text: rs10838692
PubMed Link: 35741817
Variant Present in the following documents:
  • genes-13-01055.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: MADD: 4378-122T>C; rs10838692
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

Nature Communications
Choquet, Hélène H; Paylakhi, Seyyedhassan S; Kneeland, Stephen C SC; Thai, Khanh K KK; Hoffmann, Thomas J TJ; Yin, Jie J; Kvale, Mark N MN; Banda, Yambazi Y; Tolman, Nicholas G NG; Williams, Pete A PA; Schaefer, Catherine C; Melles, Ronald B RB; Risch, Neil N; John, Simon W M SWM; Nair, K Saidas KS; Jorgenson, Eric E
Publication Date: 2018-06-11

Variant appearance in text: rs10838692
PubMed Link: 29891935
Variant Present in the following documents:
  • 41467_2018_4555_MOESM2_ESM.pdf
View BVdb publication page



Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications
Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O
Publication Date: 2015-08-10

Variant appearance in text: rs10838692
PubMed Link: 26259071
Variant Present in the following documents:
  • ncomms8971-s1.pdf
View BVdb publication page



Use of allele-specific FAIRE to determine functional regulatory polymorphism using large-scale genotyping arrays.

Plos Genetics
Smith, Andrew J P AJ; Howard, Philip P; Shah, Sonia S; Eriksson, Per P; Stender, Stefan S; Giambartolomei, Claudia C; Folkersen, Lasse L; Tybjærg-Hansen, Anne A; Kumari, Meena M; Palmen, Jutta J; Hingorani, Aroon D AD; Talmud, Philippa J PJ; Humphries, Steve E SE
Publication Date: 2012

Variant appearance in text: rs10838692
PubMed Link: 22916038
Variant Present in the following documents:
  • Main text
  • pgen.1002908.pdf
View BVdb publication page



Cardiac myosin binding protein C and MAP-kinase activating death domain-containing gene polymorphisms and diastolic heart failure.

Plos One
Wu, Cho-Kai CK; Huang, Yin-Tsen YT; Lee, Jen-Kuang JK; Chiang, Liang-Ting LT; Chiang, Fu-Tien FT; Huang, Shu-Wei SW; Lin, Jiunn-Lee JL; Tseng, Chuen-Den CD; Chen, Yau-Hung YH; Tsai, Chia-Ti CT
Publication Date: 2012

Variant appearance in text: rs10838692
PubMed Link: 22529996
Variant Present in the following documents:
  • Main text
  • pone.0035242.pdf
View BVdb publication page