chr3:48856926:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr3:48,894,359-48,936,337 
hg38 chr3:48,856,926-48,898,904

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 Carcinoma, Transitional Cell NA BeFree Detail
<0.001 Cardiovascular Diseases NA BeFree Detail
<0.001 Coronary Arteriosclerosis NA BeFree Detail
<0.001 Coronary heart disease NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
<0.001 Primary myelofibrosis A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... BeFree 22052707 Detail
<0.001 obesity NA BeFree Detail
<0.001 rheumatic heart disease NA BeFree Detail
<0.001 schizophrenia NA BeFree Detail
<0.001 Aortic Aneurysm, Thoracic NA BeFree Detail
<0.001 Neuroectodermal Tumor, Primitive NA BeFree Detail
<0.001 Cystadenocarcinoma, Serous NA BeFree Detail
<0.001 extraosseous Ewings sarcoma-primitive neuroepithelial tumor NA BeFree Detail
<0.001 Infantile Refsum Disease (disorder) NA BeFree Detail
<0.001 High altitude pulmonary edema NA BeFree Detail
<0.001 Carnitine palmitoyl transferase 2 deficiency NA BeFree Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Oropharynx (excludes nasopharynx) NA BeFree Detail
<0.001 Carotid Atherosclerosis NA BeFree Detail
<0.001 Ewings sarcoma-primitive neuroectodermal tumor (PNET) NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Endothelial dysfunction NA BeFree Detail
<0.001 Atypical teratoid/rhabdoid tumor NA BeFree Detail
<0.001 Lattice corneal dystrophy Type I Of the 125 M. tuberculosis isolates, 35 (28%) were found to be rifampicin-resist... BeFree 25526063 Detail
0.001 coronary artery disease NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 Chronic ulcerative colitis NA BeFree Detail
<0.001 adenoma NA BeFree Detail
<0.001 Primary myelofibrosis NA BeFree Detail
<0.001 Alzheimer's disease NA BeFree Detail
<0.001 beta thalassemia NA BeFree Detail
<0.001 bipolar disorder NA BeFree Detail
<0.001 Malignant neoplasm of urinary bladder NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... 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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Of the 125 M. tuberculosis isolates, 35 (28%) were found to be rifampicin-resistant and using the LC... 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
rs28934572 dbSNP
Genome
hg38
Position
chr3:48,856,926-48,898,904
Variant Type
snv
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