chr6:117622233:C>G 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>C | NP_002935.2:p.Asp2213His |
Ensemble | ENST00000368507.8:c.6619G>C | ENST00000368507.8:p.Asp2207His |
ENST00000368508.7:c.6637G>C | ENST00000368508.7:p.Asp2213His |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | 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 | 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
- -
- dbSNP
- rs529038 dbSNP
- Genome
- hg19
- Position
- chr6:117,622,233-117,622,233
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
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