chr17:42346547:T>C Detail (hg38) (STAT3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:40,498,565-40,498,565 View the variant detail on this assembly version. |
hg38 | chr17:42,346,547-42,346,547 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003150.3:c.273+22A>G | |
NM_139276.2:c.273+22A>G | ||
NM_213662.1:c.273+22A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.010 |
ToMMo:0.009 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.014 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2020-05-30 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | thyroiditis | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... | BeFree | 24081513 | Detail |
<0.001 | Graves Disease | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... | BeFree | 24081513 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_139276.3(STAT3):c.273+22A>G AND not provided | ClinVar | Detail |
We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... | DisGeNET | Detail |
We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2291282 dbSNP
- Genome
- hg38
- Position
- chr17:42,346,547-42,346,547
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 835
- Mean of sample read depth (HGVD)
- 20.81
- Standard deviation of sample read depth (HGVD)
- 29.55
- Number of reference allele (HGVD)
- 1654
- Number of alternative allele (HGVD)
- 16
- Allele Frequency (HGVD)
- 0.009580838323353293
- Gene Symbol (HGVD)
- STAT3
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2291282
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0092
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 155
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 117
- East Asian Heterozygous Counts (ExAC)
- 113
- East Asian Homozygous Counts (ExAC)
- 2
- East Asian Allele Frequency (ExAC)
- 0.013519759648717357
- Chromosome Counts in All Race (ExAC)
- 121402
- Allele Counts in All Race (ExAC)
- 124
- Heterozygous Counts in All Race (ExAC)
- 120
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 0.0010213999769361295
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