chr17:40481529:G>A Detail (hg19) (STAT3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:40,481,529-40,481,529 |
| hg38 | chr17:42,329,511-42,329,511 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003150.3:c.1233+43C>T | |
| NM_139276.2:c.1233+43C>T | ||
| NM_213662.1:c.1233+43C>T |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.128 | multiple sclerosis | Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loc... | GWASCAT | 22190364 | Detail |
| 0.128 | multiple sclerosis | [We have performed a meta-analysis of GWAS in MS that more than doubles the size... | GAD | 22190364 | Detail |
| <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 |
|---|---|---|
| Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. | DisGeNET | Detail |
| [We have performed a meta-analysis of GWAS in MS that more than doubles the size of previous gene di... | DisGeNET | 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 Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2293152 dbSNP
- Genome
- hg19
- Position
- chr17:40,481,529-40,481,529
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs2293152
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 4
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 4.626416840157298E-4
- Chromosome Counts in All Race (ExAC)
- 121380
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.295435821387378E-5
Genome browser