MARRVEL: Search Result

Warning! Could not find gene information for Chr6:99365567 T>C. OMIM, ClinVar, protein alignment, and model organism table can not be loaded.
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Population Allele Frequencies (gnomAD database)Chr6:99365567 T>C

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Open on the gnomAD website

Allele Count	{{gnomad.alleleCount}}
Allele Number	{{gnomad.alleleNumber}}
Homozygous count	{{gnomad.homCount}}
Allele frequency	{{gnomad.alleleFrequency.toFixed(6)}}
Gene	{{gene.symbol}}

No matches found

Population Allele Frequencies (ExAC database)Chr6:99365567 T>C

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Open on the ExAC website

Allele count	{{exacRes.ExACalleleCount}}
Allele number	{{exacRes.ExACalleleNum}}
Homozygous count	{{exacRes.ExAChomCount}}
Allele frequency	{{exacRes.ExACalleleFreq}}
Gene	{{symbol}}

No matches found

Single-Nucleotide Variant Functional PredictionChr6:99365567 T>C

Prediction tool	Score / Prediction	Rank Score
CADD phred Uses 63 annotations (949 features).	{{ dbNSFP.scores.CADD.phred }} Range = 0 (least damaging) to 50 (most damaging)
REVEL Ensemble method of 13 tools.	{{ dbNSFP.scores.REVEL.score }} Range = 0 (least damaging) to 1 (most damaging)
M-CAP Uses conservation data and trained on mutations linked to Mendelian diseases.	{{ dbNSFP.scores.MCAP.prediction }} Possible scores are: Tolerated or Damaging
Polyphen-2 HumDiv Uses eight sequence-based and three structure-based predictive features. Trained with Mendelian disease mutations and SNVs from close mammalian homolog proteins.	{{ dbNSFP.scores.Polyphen2HDIV.prediction }} Possible scores are: Benign, Possibly Damaging, and Probably Damaging
Polyphen-2 HumVar Uses eight sequence-based and three structure-based predictive features. Trained with disease associated and common SNVs.	{{ dbNSFP.scores.Polyphen2HVAR.prediction }} Possible scores are: Benign, Possibly Damaging, and Probably Damaging
GERP++ Uses multiple alignments and phylogenetic tree of 34 mammals.	{{ dbNSFP.scores['GERP++RS'].score }} -12.3 (least conserved) to 6.17 (most conserved)
phyloP 100way Vertebrate Uses multiple alignments and phylogenetic tree of 100 vertebrates.	{{ dbNSFP.scores.phyloP100wayVertebrate.score }} Range =- 20.0 (least conserved) to 10.003 (most conserved)
phyloP 30way Mammalian	{{ dbNSFP.phyloP30wayMammalian.score }}

No matches found

Disease Population (Geno2MP database)Chr6:99365567 T>C

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Open on the Geno2MP website

Number of HPO profiles HPO:Human Phenotype Ontology	{{geno2mpRes[0].hpoCount}}
Homozygous count	{{geno2mpRes[0].homCount}}
Heterozygous count	{{geno2mpRes[0].hetCount}}
Genes	{{geno2mpRes[0].genes}}
Functional annotation	{{geno2mpRes[0].funcAnnot}}

No matches found

Gene-Phenotype Relationships (Geno2MP)Chr6:99365567 T>C

No matches found

Sample Status	Broad Term	Medium Term	Narrow Term
{{item.sampleStatus}}	{{item.broadTerm}}	{{item.mediumTerm}}	{{item.narrowTerm}}

Copy Number Variation in Control Population (DGV Database){{dgvRes.chr + ':' + dgvRes.pos}}

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Position	Size	Type	Subtype	Frequency	Gain	Loss	Sample Size	References	Genes
{{item.chr}} {{item.start}} {{item.end}}	{{item.end - item.start}}	{{item.varType}}	{{item.varSubType}}	{{(item.freq \|\| (item.observedgains + item.observedlosses) / item.sampleSize).toFixed(8)}}	{{item.observedgains}}	{{item.observedlosses}}	{{item.sampleSize}}	{{item.pubmedId}}	{{aGene}}

No matches found

Common Copy Number Variants (DECIPHER Database){{decipherRes.chr + ':' + decipherRes.pos}}

No matches found

Position	Size	Frequency	Deletion	Duplication	Sample Size	Study
{{item.chrom}} {{item.start}} {{item.end}}	{{item.end - item.start}}	{{(item.freq \|\| (item.delObs+item.dupObs)/item.sampleSize).toFixed(8)}}	{{item.delObs}}	{{item.dupObs}}	{{item.sampleSize}}	{{item.study}}