chr17:56270087:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr17:56,270,087-56,282,535
hg38 chr17:58,192,726-58,205,174 

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
<0.001 Cardiovascular Diseases However, until now only a handful number of genetic variants were reported to be... BeFree 25169573 Detail
<0.001 colorectal carcinoma NA BeFree Detail
<0.001 Deglutition Disorders We have (1) established a validated, parent proxy-reported measure for pediatric... BeFree 26051952 Detail
<0.001 Diabetes However, until now only a handful number of genetic variants were reported to be... BeFree 25169573 Detail
<0.001 diabetes mellitus However, until now only a handful number of genetic variants were reported to be... BeFree 25169573 Detail
<0.001 Diabetic Nephropathy NA BeFree Detail
<0.001 diphtheria NA BeFree Detail
<0.001 glioblastoma NA BeFree Detail
<0.001 Glioma NA BeFree Detail
0.003 Hay fever NA BeFree,LHGDN Detail
<0.001 ischemia NA BeFree Detail
<0.001 Kidney Failure, Chronic NA BeFree Detail
<0.001 Fibroid Tumor EPO mRNA expression was detected in 108 of 114, or 95%, of the leiomyomas. BeFree 25724399 Detail
<0.001 leukemia NA BeFree Detail
<0.001 Acute Erythroblastic Leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
<0.001 Pituitary Diseases NA BeFree Detail
0.002 polycythemia NA BeFree Detail
<0.001 polycythemia vera NA BeFree Detail
<0.001 Retinal Diseases However, until now only a handful number of genetic variants were reported to be... BeFree 25169573 Detail
0.003 tuberculosis NA LHGDN Detail
<0.001 Uterine Fibroids EPO mRNA expression was detected in 108 of 114, or 95%, of the leiomyomas. BeFree 25724399 Detail
<0.001 Familial erythrocytosis NA BeFree Detail
<0.001 Tumor Progression NA BeFree Detail
<0.001 Ichthyosis linearis circumflexa Interestingly, the highest level of EPO/% retic ratio as indicated for EPO non-r... BeFree 25477265 Detail
<0.001 Impaired glucose tolerance NA BeFree Detail
<0.001 sialuria NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Myeloperoxidase deficiency NA BeFree Detail
<0.001 prostate carcinoma NA BeFree Detail
<0.001 polycythemia vera As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive p... BeFree 18616871 Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 Sialic Acid Storage Disease, Finnish Type (disorder) NA BeFree Detail
<0.001 Renal anemia NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
0.120 Presentey Anomaly NA UNIPROT Detail
<0.001 Parvovirus B19 (disease) NA BeFree Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 amyotrophic lateral sclerosis NA BeFree Detail
0.001 anemia NA BeFree Detail
<0.001 Brain Neoplasms NA BeFree Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Rectal Carcinoma NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
<0.001 renal cell carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
However, until now only a handful number of genetic variants were reported to be associated with eit... DisGeNET Detail
NA DisGeNET Detail
We have (1) established a validated, parent proxy-reported measure for pediatric EoE, the PEESS v2.0... DisGeNET Detail
However, until now only a handful number of genetic variants were reported to be associated with eit... DisGeNET Detail
However, until now only a handful number of genetic variants were reported to be associated with eit... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
EPO mRNA expression was detected in 108 of 114, or 95%, of the leiomyomas. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
However, until now only a handful number of genetic variants were reported to be associated with eit... DisGeNET Detail
NA DisGeNET Detail
EPO mRNA expression was detected in 108 of 114, or 95%, of the leiomyomas. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Interestingly, the highest level of EPO/% retic ratio as indicated for EPO non-responder was detecte... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA 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
rs386626619 dbSNP
Genome
hg19
Position
chr17:56,270,087-56,282,535
Variant Type
snv
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