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MSeqDR Data Summary for the Term rs3888511:
Ensembl GeneVariationGeneLSDB IDclinVar IDseq region startseq region endallele stringevidenceminor alleleminor allele freqPhenotype descriptionconsequence typesEnsembl Gene IDAssociated Gene NamechrGene StartGene EndStrandBandGene BiotypeDescriptionclinVar
ENSG00000211459 MSeqDR Search Ensemblrs3888511MT-RNR10000001294961961T/C/GMultiple_observations,CitedC0.01029AllHighlyPenetrantnc_transcript_variant,non_coding_exon_variant,downstream_gene_variant,upstream_gene_variantENSG00000211459MT-RNR1M64816011Mt_rRNAmitochondrially encoded 12S RNA [Source:HGNC Symbol;Acc:7470]
ENSG00000211459 MSeqDR Search Ensemblrs3888511MT-RNR10000001295961961T/C/GMultiple_observations,CitedC0.01029AllHighlyPenetrantnc_transcript_variant,non_coding_exon_variant,downstream_gene_variant,upstream_gene_variantENSG00000211459MT-RNR1M64816011Mt_rRNAmitochondrially encoded 12S RNA [Source:HGNC Symbol;Acc:7470]
ENSG00000211459 MSeqDR Search Ensemblrs3888511MT-RNR10000001294961961T/C/GMultiple_observations,CitedC0.01029Deafness, nonsyndromic sensorineural, mitochondrialnc_transcript_variant,non_coding_exon_variant,downstream_gene_variant,upstream_gene_variantENSG00000211459MT-RNR1M64816011Mt_rRNAmitochondrially encoded 12S RNA [Source:HGNC Symbol;Acc:7470]
ENSG00000211459 MSeqDR Search Ensemblrs3888511MT-RNR10000001295961961T/C/GMultiple_observations,CitedC0.01029Deafness, nonsyndromic sensorineural, mitochondrialnc_transcript_variant,non_coding_exon_variant,downstream_gene_variant,upstream_gene_variantENSG00000211459MT-RNR1M64816011Mt_rRNAmitochondrially encoded 12S RNA [Source:HGNC Symbol;Acc:7470]

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MSeqDR Master Exome Data Set M1: 52 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1M648AGENST00000389680ENSG000002114596481601-MT-RNR11-c.1A>G--NA--lod=140:497---hom1
2M663AGENST00000389680ENSG000002114596481601-MT-RNR11-c.16A>G--rs3937039--lod=140:497---hom21
3M686AGENST00000389680ENSG000002114596481601-MT-RNR11-c.39A>G--rs78880991------hom2
4M709GAENST00000389680ENSG000002114596481601-MT-RNR11-c.62G>A--rs2853517--lod=107:469---het1
5M709GAENST00000389680ENSG000002114596481601-MT-RNR11-c.62G>A--rs2853517--lod=107:469---hom128
6M710TCENST00000389680ENSG000002114596481601-MT-RNR11-c.63T>C--rs28358568--lod=107:469---hom2
7M710TCENST00000389680ENSG000002114596481601-MT-RNR11-c.63T>C--rs28358568--lod=107:469---het1
8M721TCENST00000389680ENSG000002114596481601-MT-RNR11-c.74T>C--NA------hom2
9M722CTENST00000389680ENSG000002114596481601-MT-RNR11-c.75C>T--NA--lod=38:358---hom1
10M723ACENST00000389680ENSG000002114596481601-MT-RNR11-c.76A>C--NA--lod=38:358---hom3
11M745AGENST00000389680ENSG000002114596481601-MT-RNR11-c.98A>G--NA------hom1
12M750AGENST00000389680ENSG000002114596481601-MT-RNR11-c.103A>G--rs112547485--lod=32:340---hom927
13M769GAENST00000389680ENSG000002114596481601-MT-RNR11-c.122G>A--rs111347407--lod=68:420---hom26
14M813AGENST00000389680ENSG000002114596481601-MT-RNR11-c.166A>G--rs77267909--lod=138:496---hom2
15M825TAENST00000389680ENSG000002114596481601-MT-RNR11-c.178T>A--rs111410691--lod=86:445---het1
16M825TAENST00000389680ENSG000002114596481601-MT-RNR11-c.178T>A--rs111410691--lod=86:445---hom10
17M827AGENST00000389680ENSG000002114596481601-MT-RNR11-c.180A>G--rs113842757--lod=86:445---hom22
18M896AGENST00000389680ENSG000002114596481601-MT-RNR11-c.249A>G--NA--lod=299:578---hom1
19M921TCENST00000389680ENSG000002114596481601-MT-RNR11-c.274T>C--rs28358570--lod=299:578---hom3
20M928AGENST00000389680ENSG000002114596481601-MT-RNR11-c.281A>G--NA--lod=15:259---hom2
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       Transcripts and variants in the surrounding MT-RNR1 M:648..1601 region Gbrowse