This database is called scMitoV, and the full name is 'Single-cell resolution landscape of mitochondrial variants in human disease'. The icon on the left side of the image is the logo of this database, depicting a mitochondrion and a circle DNA. Inside the logo is the name of the database. The right side of the image shows the full name.

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Center for Computational Systems Medicine
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Variant summary

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Chromosome location of this variant

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Diseases and cell types significantly enriched for this variant

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Diseases and cell types not significantly enriched for this variant

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Occurrence of this variant in diseases and cell types

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Other diseases related to this variant that have been studied before


Variant: MT3002G>A

Summary for MT3002G>A

ChrchrMGene symbol

MT-RNR2

Start3002Gene typerRNA
End3002Synonyms16S|HN|MTRNR2
RefGGene name
AltAEnsembl ID

ENSG00000210082

dbSNP ID

Entrez ID
Mutation typeSNVUniProtAcc
Mutation detail[A] Effect: non-coding region; Substitution: G→A

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Chromosome location of MT3002G>A

check buttonThe chromosome location of this variant is shown below. Mutations occurring at this locus are labeled on the reference base. (If the image exists, the user can click on it to enlarge it in a new window.)

This image shows the chromosomal location of the variant and the genomic sequence 50 bp above and below it.

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Diseases and cell types significantly enriched for MT3002G>A

check buttonThe table displays the diseases and cell types in which this variant is significantly enriched. The table is first ordered by the position.
Columns:'Gene', 'Impact mode', 'Disease', 'Cell type', 'D_hom_mut', 'D_het_mut', 'D_total_cells', 'N_hom_mut', 'N_het_mut', 'N_total_cells', 'D_mean_vaf', 'N_mean_vaf', 'Log odds', 'P value, Method', '%Cells/Ind'

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Diseases and cell types not significantly enriched for MT3002G>A

check buttonThe table displays the diseases and cell types in which this variant is not significantly enriched. The table is first ordered by the position.
Columns:'Gene', 'Impact mode', 'Disease', 'Cell type', 'D_hom_mut', 'D_het_mut', 'D_total_cells', 'N_hom_mut', 'N_het_mut', 'N_total_cells', 'D_mean_vaf', 'N_mean_vaf', 'Log odds', 'P value, Method', '%Cells/Ind'
GeneImpact modeDiseaseCell typeD_hom_mutⓘD_het_mutⓘD_total_cellsⓘN_hom_mutⓘN_het_mutⓘN_total_cellsⓘD_mean_vafⓘN_mean_vafⓘLog oddsⓘP valueMethodⓘ%Cells/Ind ⓘ

MT-RNR2

Non-coding substitution

Pre-T2D

Endocrine cell32694836101149000.0000.000-0.4445.48e-01glmerStat Info

MT-RNR2

Non-coding substitution

Type 2 Diabetes

Endocrine cell18465586101149000.0000.0000.7812.72e-01glmerStat Info
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Occurrence of MT3002G>A in diseases and cell types

check buttonThe dot plot shows the occurrence of this variant in diseases and cell types. The dots surrounded by a thick black line represents that compared with the normal group, this mutation has statistical differences in this cell type of this disease (FDR <0.05). Red dots represent significantly high enrichment in the disease group (Odds Ratio >1), while blue dots represent significantly high enrichment in the normal group (Odds Ratio <1). (If the image exists, the user can click on it to enlarge it in a new window.)

The dot plot shows the occurrence of this variant across all diseases and cell types. Red dots represent significantly high enrichment in the disease group, while blue dots represent significantly low enrichment in the normal group. White dots represent that there is no significant difference in the occurrence of this variant between the disease and normal groups. Blank represents that this cell type is not present in this disease tissue.

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Other diseases related to MT3002G>A that have been studied before

check buttonOther diseases related to this variant that have been studied before are shown below.
VariantdbSNPDisGeNETAssociated diseasesPMID
MT3002G>A

DisGeNET