LRP1 c.2531-1083G>T

Variant ID: 12-57558505-G-T

NM_002332.2(LRP1):c.2531-1083G>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

European Journal Of Human Genetics : Ejhg
Ferrari, Luca L; Mangano, Eleonora E; Bonati, Maria Teresa MT; Monterosso, Ilaria I; Capitanio, Daniele D; Chiappori, Federica F; Brambilla, Ilaria I; Gelfi, Cecilia C; Battaglia, Cristina C; Bordoni, Roberta R; Riva, Paola P
Publication Date: 2020-10

Variant appearance in text: rs7975818
PubMed Link: 32514133
Variant Present in the following documents:
  • 41431_2020_658_MOESM2_ESM.xlsx, sheet 1
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The association between LRP-1 variants and chylomicron uptake after a high fat meal.

Nutrition, Metabolism, And Cardiovascular Diseases : Nmcd
Frazier-Wood, A C AC; Kabagambe, E K EK; Wojczynski, M K MK; Borecki, I B IB; Tiwari, H K HK; Smith, C E CE; Ordovas, J M JM; Arnett, D K DK
Publication Date: 2013-11

Variant appearance in text: rs7975818
PubMed Link: 23484911
Variant Present in the following documents:
  • Main text
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GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia.

Molecular Psychiatry
Chen, X X; Lee, G G; Maher, B S BS; Fanous, A H AH; Chen, J J; Zhao, Z Z; Guo, A A; van den Oord, E E; Sullivan, P F PF; Shi, J J; Levinson, D F DF; Gejman, P V PV; Sanders, A A; Duan, J J; Owen, M J MJ; Craddock, N J NJ; O'Donovan, M C MC; Blackman, J J; Lewis, D D; Kirov, G K GK; Qin, W W; Schwab, S S; Wildenauer, D D; Chowdari, K K; Nimgaonkar, V V; Straub, R E RE; Weinberger, D R DR; O'Neill, F A FA; Walsh, D D; Bronstein, M M; Darvasi, A A; Lencz, T T; Malhotra, A K AK; Rujescu, D D; Giegling, I I; Werge, T T; Hansen, T T; Ingason, A A; Nöethen, M M MM; Rietschel, M M; Cichon, S S; Djurovic, S S; Andreassen, O A OA; Cantor, R M RM; Ophoff, R R; Corvin, A A; Morris, D W DW; Gill, M M; Pato, C N CN; Pato, M T MT; Macedo, A A; Gurling, H M D HM; McQuillin, A A; Pimm, J J; Hultman, C C; Lichtenstein, P P; Sklar, P P; Purcell, S M SM; Scolnick, E E; St Clair, D D; Blackwood, D H R DH; Kendler, K S KS; , ; ,
Publication Date: 2011-11

Variant appearance in text: rs7975818
PubMed Link: 20838396
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.

Plos Genetics
Weidinger, Stephan S; Gieger, Christian C; Rodriguez, Elke E; Baurecht, Hansjörg H; Mempel, Martin M; Klopp, Norman N; Gohlke, Henning H; Wagenpfeil, Stefan S; Ollert, Markus M; Ring, Johannes J; Behrendt, Heidrun H; Heinrich, Joachim J; Novak, Natalija N; Bieber, Thomas T; Krämer, Ursula U; Berdel, Dietrich D; von Berg, Andrea A; Bauer, Carl Peter CP; Herbarth, Olf O; Koletzko, Sibylle S; Prokisch, Holger H; Mehta, Divya D; Meitinger, Thomas T; Depner, Martin M; von Mutius, Erika E; Liang, Liming L; Moffatt, Miriam M; Cookson, William W; Kabesch, Michael M; Wichmann, H-Erich HE; Illig, Thomas T
Publication Date: 2008-08

Variant appearance in text: rs7975818
PubMed Link: 18846228
Variant Present in the following documents:
View BVdb publication page