ABCA4 c.768+5925A>G

Variant ID: 1-94558425-T-C

NM_000350.2(ABCA4):c.768+5925A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene.

Genes
van Rooij, Iris Alm IA; Ludwig, Kerstin U KU; Welzenbach, Julia J; Ishorst, Nina N; Thonissen, Michelle M; Galesloot, Tessel E TE; Ongkosuwito, Edwin E; Bergé, Stefaan J SJ; Aldhorae, Khalid K; Rojas-Martinez, Augusto A; Kiemeney, Lambertus Alm LA; Vermeesch, Joris Robert JR; Brunner, Han H; Roeleveld, Nel N; Devriendt, Koen K; Dormaar, Titiaan T; Hens, Greet G; Knapp, Michael M; Carels, Carine C; Mangold, Elisabeth E
Publication Date: 2019-12-07

Variant appearance in text: rs952499
PubMed Link: 31817908
Variant Present in the following documents:
  • Main text
  • genes-10-01023.pdf
View BVdb publication page



Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.

Scientific Reports
Ngô, Huân M HM; Zhou, Ying Y; Lorenzi, Hernan H; Wang, Kai K; Kim, Taek-Kyun TK; Zhou, Yong Y; El Bissati, Kamal K; Mui, Ernest E; Fraczek, Laura L; Rajagopala, Seesandra V SV; Roberts, Craig W CW; Henriquez, Fiona L FL; Montpetit, Alexandre A; Blackwell, Jenefer M JM; Jamieson, Sarra E SE; Wheeler, Kelsey K; Begeman, Ian J IJ; Naranjo-Galvis, Carlos C; Alliey-Rodriguez, Ney N; Davis, Roderick G RG; Soroceanu, Liliana L; Cobbs, Charles C; Steindler, Dennis A DA; Boyer, Kenneth K; Noble, A Gwendolyn AG; Swisher, Charles N CN; Heydemann, Peter T PT; Rabiah, Peter P; Withers, Shawn S; Soteropoulos, Patricia P; Hood, Leroy L; McLeod, Rima R
Publication Date: 2017-09-13

Variant appearance in text: rs952499
PubMed Link: 28904337
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10675.pdf
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Prematurity and severity are associated with Toxoplasma gondii alleles (NCCCTS, 1981-2009).

Clinical Infectious Diseases : An Official Publication Of The Infectious Diseases Society Of America
McLeod, Rima R; Boyer, Kenneth M KM; Lee, Daniel D; Mui, Ernest E; Wroblewski, Kristen K; Karrison, Theodore T; Noble, A Gwendolyn AG; Withers, Shawn S; Swisher, Charles N CN; Heydemann, Peter T PT; Sautter, Mari M; Babiarz, Jane J; Rabiah, Peter P; Meier, Paul P; Grigg, Michael E ME; ,
Publication Date: 2012-06

Variant appearance in text: rs952499
PubMed Link: 22499837
Variant Present in the following documents:
  • Main text
View BVdb publication page



Host genetic and epigenetic factors in toxoplasmosis.

Memorias Do Instituto Oswaldo Cruz
Jamieson, Sarra E SE; Cordell, Heather H; Petersen, Eskild E; McLeod, Rima R; Gilbert, Ruth E RE; Blackwell, Jenefer M JM
Publication Date: 2009-03

Variant appearance in text: rs952499
PubMed Link: 19430638
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

Plos One
Jamieson, Sarra E SE; de Roubaix, Lee-Anne LA; Cortina-Borja, Mario M; Tan, Hooi Kuan HK; Mui, Ernest J EJ; Cordell, Heather J HJ; Kirisits, Michael J MJ; Miller, E Nancy EN; Peacock, Christopher S CS; Hargrave, Aubrey C AC; Coyne, Jessica J JJ; Boyer, Kenneth K; Bessieres, Marie-Hélène MH; Buffolano, Wilma W; Ferret, Nicole N; Franck, Jacqueline J; Kieffer, François F; Meier, Paul P; Nowakowska, Dorota E DE; Paul, Malgorzata M; Peyron, François F; Stray-Pedersen, Babill B; Prusa, Andrea-Romana AR; Thulliez, Philippe P; Wallon, Martine M; Petersen, Eskild E; McLeod, Rima R; Gilbert, Ruth E RE; Blackwell, Jenefer M JM
Publication Date: 2008-06-04

Variant appearance in text: rs952499
PubMed Link: 18523590
Variant Present in the following documents:
  • Main text
  • pone.0002285.pdf
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Application of the regression of offspring on mid-parent method to detect associations between single-nucleotide polymorphisms and the beta 2 electroencephalogram phenotype in the COGA data.

Bmc Genetics
Roy-Gagnon, Marie-Hélène MH; Mathias, Rasika A RA; Wilson, Alexander F AF
Publication Date: 2005-12-30

Variant appearance in text: rs952499
PubMed Link: 16451668
Variant Present in the following documents:
  • Main text
  • 1471-2156-6-S1-S56.pdf
View BVdb publication page