chr4:88725955:> Detail (hg38)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:89,647,106-89,978,496 |
hg38 | chr4:88,725,955-89,057,345 |
HGVS
Type | Transcript | Protein |
---|---|---|
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.002 | Corneal Diseases | NA | GAD | Detail | |
0.002 | Kidney Diseases | NA | GAD | Detail | |
0.002 | Lung diseases | NA | GAD | Detail | |
0.248 | Chronic Obstructive Airway Disease | We have validated associations of FAM13A and PID1 with COPD. | BeFree,CTD_human,GAD,GWASCAT | 24737086 | Detail |
0.248 | Chronic Obstructive Airway Disease | Variants in FAM13A have been found in genome-wide association studies (GWAS) to ... | BeFree,CTD_human,GAD,GWASCAT | 25163686 | Detail |
0.248 | Chronic Obstructive Airway Disease | The two most significant single-nucleotide polymorphisms in FAM13A from a previo... | BeFree,CTD_human,GAD,GWASCAT | 25584925 | Detail |
0.002 | Cerebrovascular accident | NA | GAD | Detail | |
0.002 | Subarachnoid Hemorrhage | NA | GAD | Detail | |
0.002 | Tobacco use disorder | NA | GAD | Detail | |
0.002 | Intracranial Hemorrhages | NA | GAD | Detail | |
0.002 | Malignant neoplasm of cornea | NA | GAD | Detail | |
0.002 | Benign neoplasm of cornea | NA | GAD | Detail | |
0.120 | Lung Diseases, Interstitial | NA | GWASCAT | Detail | |
<0.001 | Chronic lung disease | Moving beyond genetics: is FAM13A a major biological contributor in lung physiol... | BeFree | 25163686 | Detail |
<0.001 | asthma with copd | Variants in FAM13A have been found in genome-wide association studies (GWAS) to ... | BeFree | 25163686 | Detail |
0.002 | Blood pressure finding | NA | GAD | Detail | |
0.002 | Systemic arterial pressure | NA | GAD | Detail | |
0.002 | Alkaline Phosphatase Adverse Event | NA | GAD | Detail | |
0.240 | Idiopathic Pulmonary Fibrosis | NA | CTD_human,ORPHANET | Detail | |
<0.001 | Idiopathic Interstitial Pneumonias | Variants in FAM13A have been found in genome-wide association studies (GWAS) to ... | BeFree | 25163686 | Detail |
0.002 | Cerebral Hemorrhage | NA | GAD | Detail | |
0.120 | Pulmonary function (finding) | NA | GWASCAT | Detail | |
0.248 | Chronic Obstructive Airway Disease | We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... | BeFree | 22461431 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We have validated associations of FAM13A and PID1 with COPD. | DisGeNET | Detail |
Variants in FAM13A have been found in genome-wide association studies (GWAS) to associate with lung ... | DisGeNET | Detail |
The two most significant single-nucleotide polymorphisms in FAM13A from a previous genome-wide study... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Moving beyond genetics: is FAM13A a major biological contributor in lung physiology and chronic lung... | DisGeNET | Detail |
Variants in FAM13A have been found in genome-wide association studies (GWAS) to associate with lung ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Variants in FAM13A have been found in genome-wide association studies (GWAS) to associate with lung ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... | 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
- rs17096090 dbSNP
- Genome
- hg38
- Position
- chr4:88,725,955-89,057,345
- Variant Type
- snv
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