chr6:117622233:C>T Detail (hg19) (ROS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:117,622,233-117,622,233 |
| hg38 | chr6:117,301,070-117,301,070 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002944.2:c.6637G>A | NP_002935.2:p.Asp2213Asn |
| Ensemble | ENST00000368507.8:c.6619G>A | ENST00000368507.8:p.Asp2207Asn |
| ENST00000368508.7:c.6637G>A | ENST00000368508.7:p.Asp2213Asn |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1,598 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.151 |
| ToMMo:0.146 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.183 |
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
|
upper third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
middle third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
lower third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
oesophagus, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
fundus of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
pyloric antrum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
stomach, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
duodenum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
jejunum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
small intestine, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
caecum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
appendix |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
transverse colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectosigmoid junction |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
anal canal |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
liver cell carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
intrahepatic bile duct carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of gallbladder |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
extrahepatic bile duct |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ampulla of vater |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
head of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
tail of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ill-defined sites within the digestive system |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
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 |
|---|---|---|---|---|---|
| <0.001 | cerebral infarction | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.005 | Cerebrovascular accident | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.003 | Cerebrovascular accident | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.011 | diabetes mellitus | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.115 | Cerebrovascular accident | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.005 | Hypertensive disease | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.002 | Cerebrovascular accident | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.003 | cerebral infarction | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.002 | diabetes mellitus | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.143 | diabetes mellitus | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.003 | Hypertensive disease | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.122 | cerebral infarction | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| <0.001 | diabetes mellitus | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.006 | Hypertensive disease | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.143 | Hypertensive disease | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 18506375 | Detail |
| 0.010 | myocardial infarction | Rs619203 (Cys2229Ser) and rs529038 (Asp2213Asn) polymorphisms in the ROS1 gene h... | BeFree | 19863298 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... | DisGeNET | Detail |
| Rs619203 (Cys2229Ser) and rs529038 (Asp2213Asn) polymorphisms in the ROS1 gene have been studied in ... | 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
- -
- Genome
- hg19
- Position
- chr6:117,622,233-117,622,233
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1164
- Mean of sample read depth (HGVD)
- 62.16
- Standard deviation of sample read depth (HGVD)
- 33.84
- Number of reference allele (HGVD)
- 1977
- Number of alternative allele (HGVD)
- 351
- Allele Frequency (HGVD)
- 0.15077319587628865
- Gene Symbol (HGVD)
- ROS1
- 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))
- rs529038
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1462
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2451
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8630
- East Asian Allele Counts (ExAC)
- 1583
- East Asian Heterozygous Counts (ExAC)
- 1277
- East Asian Homozygous Counts (ExAC)
- 153
- East Asian Allele Frequency (ExAC)
- 0.18342989571263035
- Chromosome Counts in All Race (ExAC)
- 121212
- Allele Counts in All Race (ExAC)
- 25260
- Heterozygous Counts in All Race (ExAC)
- 19426
- Homozygous Counts in All Race (ExAC)
- 2917
- Allele Frequency in All Race (ExAC)
- 0.2083952083952084
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