Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1
Variant:p.R716Q
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CCHCR1

NM_001105564.2:p.R716Q

Associated Papers

Uncovering Signals of Positive Selection in Peruvian Populations from Three Ecological Regions.

Caro-Consuegra R et al.

Molecular Biology and Evolution, 2022

35860855 (PubMed )
Supplement: msac158_supplementary_data.zip › SuppTableS14.xlsx › Highlands_ihs_annotated_withpro

Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.

Horowitz JE et al.

Nature Genetics, 2022

35241825 (PubMed )
Supplement: 41588_2021_1006_MOESM3_ESM.xlsx › Supplementary_Table_17

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease.

Horowitz JE et al.

Medrxiv : the Preprint Server for Health Sciences, 2021

33619501 (PubMed )
Supplement: NIHPP2020.12.14.20248176V3-supplement-1.pdf

Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.

Hilbers FS et al.

International Journal of Cancer, 2020

The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene.

O'Brien KP et al.

The Journal of Investigative Dermatology, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."