chr12:53103486:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr12:53,497,270-53,518,319 
hg38 chr12:53,103,486-53,124,535

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 cholelithiasis NA BeFree Detail
<0.001 cholesterol ester storage disease These studies illustrate how the severity of disease in a mouse model for CESD c... BeFree 25450374 Detail
<0.001 ulcerative colitis NA BeFree Detail
<0.001 Coronary Arteriosclerosis NA BeFree Detail
<0.001 Coronary heart disease NA BeFree Detail
0.080 Diabetes Mellitus, Experimental NA RGD Detail
<0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19578796 Detail
<0.001 Hypercholesterolemia NA BeFree Detail
<0.001 Hyperlipidemia NA BeFree Detail
0.080 Kidney Failure, Chronic NA RGD Detail
<0.001 Liver neoplasms NA BeFree Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.080 nephrotic syndrome NA RGD Detail
<0.001 obesity NA BeFree Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
0.002 Malignant neoplasm of lung NA GAD Detail
<0.001 cholecystolithiasis NA BeFree Detail
<0.001 Chronic Kidney Diseases NA BeFree Detail
<0.001 coronary artery disease NA BeFree Detail
0.003 liver carcinoma NA BeFree,LHGDN Detail
<0.001 arteriosclerosis NA BeFree Detail
<0.001 atherosclerosis NA BeFree Detail
0.002 Malignant neoplasm of urinary bladder NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
These studies illustrate how the severity of disease in a mouse model for CESD can be substantially ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... 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

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
rs386597997 dbSNP
Genome
hg38
Position
chr12:53,103,486-53,124,535
Variant Type
snv
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