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ELL2 c.317+2534G>T
Variant ID: 5-95252594-C-A
NM_012081.5(
ELL2
):c.317+2534G>T
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression.
Nature Communications
Ali, Mina M; Ajore, Ram R; Wihlborg, Anna-Karin AK; Niroula, Abhishek A; Swaminathan, Bhairavi B; Johnsson, Ellinor E; Stephens, Owen W OW; Morgan, Gareth G; Meissner, Tobias T; Turesson, Ingemar I; Goldschmidt, Hartmut H; Mellqvist, Ulf-Henrik UH; Gullberg, Urban U; Hansson, Markus M; Hemminki, Kari K; Nahi, Hareth H; Waage, Anders A; Weinhold, Niels N; Nilsson, Björn B
Publication Date: 2018-04-25
Variant appearance in text: rs9314162
PubMed Link:
29695719
Variant Present in the following documents:
Main text
41467_2018_Article_4082.pdf
View BVdb publication page
Variations in discovery-based preeclampsia candidate genes.
Clinical And Translational Science
Founds, Sandra A SA; Shi, Haiwen H; Conley, Yvette P YP; Jeyabalan, Arun A; Roberts, James M JM; Lyons-Weiler, James J
Publication Date: 2012-08
Variant appearance in text: rs9314162
PubMed Link:
22883611
Variant Present in the following documents:
Main text
View BVdb publication page