chr5:87393417:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr5:86,689,234-86,708,846 
hg38 chr5:87,393,417-87,413,029

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 squamous cell carcinoma NA BeFree Detail
<0.001 cerebral infarction NA BeFree Detail
0.080 Transient ischemic attack NA RGD Detail
0.002 Colorectal Neoplasms NA GAD Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent NA GAD Detail
0.005 Glioma NA GAD,LHGDN Detail
<0.001 congenital heart defects NA BeFree Detail
0.003 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.002 Kidney Failure, Chronic NA GAD Detail
0.002 leukemia NA GAD Detail
0.003 chronic lymphocytic leukemia NA BeFree,GAD Detail
0.002 Leukemia, Myelocytic, Acute NA GAD Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.003 Lung Neoplasms NA LHGDN Detail
<0.001 Lyme disease NA BeFree Detail
0.120 Animal Mammary Neoplasms NA CTD_human Detail
0.200 Mammary Neoplasms, Experimental NA CTD_human,RGD Detail
0.002 meningioma NA GAD Detail
0.002 multiple sclerosis NA GAD Detail
0.002 acoustic neuroma NA GAD Detail
<0.001 Adenomatous Polyposis Coli NA BeFree Detail
0.003 B-Cell Lymphomas NA LHGDN Detail
<0.001 diffuse large B-cell lymphoma NA BeFree Detail
<0.001 Gastrointestinal Stromal Tumors NA BeFree Detail
0.008 Malignant neoplasm of lung NA BeFree,GAD Detail
<0.001 Malignant neoplasm of prostate We aimed to investigate the association between genetic variants of the DNA repa... BeFree 24615090 Detail
0.002 body mass NA GAD Detail
0.002 Malignant neoplasm of esophagus NA GAD Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 prostate carcinoma We aimed to investigate the association between genetic variants of the DNA repa... BeFree 24615090 Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Cerebral Ischemia NA BeFree Detail
<0.001 Mammary Neoplasms NA BeFree Detail
<0.001 ataxia telangiectasia NA BeFree Detail
0.002 Biliary Tract Neoplasm NA GAD Detail
0.005 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.002 Brain Neoplasms NA GAD Detail
0.002 Malignant neoplasm of breast NA GAD Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Non-small cell lung carcinoma 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
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... 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
We aimed to investigate the association between genetic variants of the DNA repair genes XPG, CSB, X... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We aimed to investigate the association between genetic variants of the DNA repair genes XPG, CSB, X... 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
rs2266690 dbSNP
Genome
hg38
Position
chr5:87,393,417-87,413,029
Variant Type
snv
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