Variant ID: 11-117531731-C-T

NM_020693.4(DSCAML1):c.511+115775G>A

This variant was identified in 12 publications




Publications:


Association of single nucleotide polymorphisms with dyslipidemia in antiretroviral exposed HIV patients in a Ghanaian population: A case-control study.

Plos One
C Obirikorang, E Acheampong, L Quaye, J Yorke, EK Amos-Abanyie, PA Akyaw, EO Anto, SB Bani, EA Asamoah, EN Batu
Publication Date: 2020

Variant appearance in text: rs10892151
PMID: 31929604
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Factors affecting high-density lipoprotein cholesterol in HIV-infected patients on nevirapine-based antiretroviral therapy.

The Indian Journal Of Medical Research
C Padmapriyadarsini, K Ramesh, L Sekar, G Ramachandran, D Reddy, G Narendran, S Sekar, C Chandrasekar, D Anbarasu, C Wanke, S Swaminathan
Publication Date: 2017-05

Variant appearance in text: rs10892151
PMID: 28948955
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Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Nature Communications
L Southam, A Gilly, D Süveges, AE Farmaki, J Schwartzentruber, I Tachmazidou, A Matchan, NW Rayner, E Tsafantakis, M Karaleftheri, Y Xue, G Dedoussis, E Zeggini
Publication Date: 2017-05-26

Variant appearance in text: rs10892151
PMID: 28548082
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Hyperlipidaemia in HIV-infected patients on lopinavir/ritonavir monotherapy in resource-limited settings.

Antiviral Therapy
MM Matoga, MC Hosseinipour, E Aga, HJ Ribaudo, N Kumarasamy, J Bartlett, MD Hughes,
Publication Date: 2017

Variant appearance in text: rs10892151
PMID: 27740537
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Dyslipidaemia and dysglycaemia in HIV-infected patients on highly active anti-retroviral therapy in Kumasi Metropolis.

African Health Sciences
RA Ngala, K Fianko
Publication Date: 2013-12

Variant appearance in text: rs10892151
PMID: 24940339
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A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

Nature Communications
I Tachmazidou, G Dedoussis, L Southam, AE Farmaki, GR Ritchie, DK Xifara, A Matchan, K Hatzikotoulas, NW Rayner, Y Chen, TI Pollin, JR O'Connell, LM Yerges-Armstrong, C Kiagiadaki, K Panoutsopoulou, J Schwartzentruber, L Moutsianas, , E Tsafantakis, C Tyler-Smith, G McVean, Y Xue, E Zeggini
Publication Date: 2013

Variant appearance in text: rs10892151
PMID: 24343240
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A method to prioritize quantitative traits and individuals for sequencing in family-based studies.

Plos One
KP Shah, JA Douglas
Publication Date: 2013

Variant appearance in text: rs10892151
PMID: 23626830
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Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study.

Cardiovascular Diabetology
CM Povel, JM Boer, NC Onland-Moret, ME Dollé, EJ Feskens, YT van der Schouw
Publication Date: 2012-10-29

Variant appearance in text: rs10892151
PMID: 23101478
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Antiretroviral treatment-induced dyslipidemia in HIV-infected patients is influenced by the APOC3-related rs10892151 polymorphism.

Bmc Medical Genetics
G Aragonès, C Alonso-Villaverde, P Pardo-Reche, A Rull, R Beltrán-Debón, E Rodríguez-Gallego, L Fernández-Sender, J Camps, J Joven
Publication Date: 2011-09-22

Variant appearance in text: rs10892151
PMID: 21939545
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs10892151
PMID: 20876667
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APOC3 null mutation affects lipoprotein profile APOC3 deficiency: from mice to man.

European Journal Of Human Genetics : Ejhg
MH Hofker
Publication Date: 2010-01

Variant appearance in text: rs10892151
PMID: 19623213
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A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

Science (New York, N.Y.)
TI Pollin, CM Damcott, H Shen, SH Ott, J Shelton, RB Horenstein, W Post, JC McLenithan, LF Bielak, PA Peyser, BD Mitchell, M Miller, JR O'Connell, AR Shuldiner
Publication Date: 2008-12-12

Variant appearance in text: rs10892151
PMID: 19074352
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000321322.6 c.691+115775G>A - intron_variant - 3/32
ENST00000527706.1 c.102+119739G>A - intron_variant - 2/30
NM_001367904.1 c.511+115775G>A - intron_variant - 3/14
NM_001367905.1 c.103+115775G>A - intron_variant - 3/6
NM_020693.4 c.511+115775G>A - intron_variant - 3/32