chr17:42346443:G>A Detail (hg38) (STAT3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:40,498,461-40,498,461 View the variant detail on this assembly version. |
hg38 | chr17:42,346,443-42,346,443 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003150.3:c.273+126C>T | |
NM_139276.2:c.273+126C>T | ||
NM_213662.1:c.273+126C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.017 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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 |
---|---|---|
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
- rs2291281 dbSNP
- Genome
- hg38
- Position
- chr17:42,346,443-42,346,443
- 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))
- rs2291281
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0172
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 288
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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