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ACE c.2059-257C>T
Variant ID: 17-61563661-C-T
NM_000789.3(
ACE
):c.2059-257C>T
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs4330
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Haplotypic variants of COVID-19 related genes are associated with blood pressure and metabolites levels.
Journal Of Medical Virology
Gholami, Morteza M; Zoughi, Marziyeh M; Hasanzad, Mandana M; Larijani, Bagher B; Amoli, Mahsa M MM
Publication Date: 2022-11-28
Variant appearance in text: rs4330
PubMed Link:
36443248
Variant Present in the following documents:
Main text
JMV-95-0.pdf
View BVdb publication page
Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04
Variant appearance in text: rs4330
PubMed Link:
30214008
Variant Present in the following documents:
Main text
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk Variants.
Frontiers In Neuroscience
Logue, Mark W MW; Lancour, Daniel D; Farrell, John J; Simkina, Irina I; Fallin, M Daniele MD; Lunetta, Kathryn L KL; Farrer, Lindsay A LA
Publication Date: 2018
Variant appearance in text: rs4330
PubMed Link:
30210277
Variant Present in the following documents:
Main text
fnins-12-00592.pdf
View BVdb publication page
Mendelian randomization: a novel approach for the prediction of adverse drug events and drug repurposing opportunities.
International Journal Of Epidemiology
Walker, Venexia M VM; Davey Smith, George G; Davies, Neil M NM; Martin, Richard M RM
Publication Date: 2017-12-01
Variant appearance in text: rs4330
PubMed Link:
29040597
Variant Present in the following documents:
Main text
dyx207.pdf
View BVdb publication page