chr2:215312059:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:216,176,782-216,214,487 
hg38 chr2:215,312,059-215,349,764

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 Malignant tumor of cervix NA BeFree Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
0.002 Gastrointestinal Diseases NA GAD Detail
<0.001 Lesch-Nyhan syndrome Analysis of metabolites extracted from red blood cells from 56 LN patients revea... BeFree 25612837 Detail
<0.001 leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 lymphoma NA BeFree Detail
<0.001 Lymphoma, Non-Hodgkin NA BeFree Detail
<0.001 obesity NA BeFree Detail
0.120 osteoporosis NA CTD_human Detail
0.002 psoriasis NA GAD Detail
0.120 Adverse reaction to drug NA CTD_human Detail
<0.001 Lymphoma, Large-Cell, Follicular NA BeFree Detail
0.002 spina bifida NA GAD Detail
<0.001 Adenocarcinoma of lung (disorder) This study shows that polymorphisms on genes related to the metabolic pathway of... BeFree 25823786 Detail
0.001 Ki-1+ Anaplastic Large Cell Lymphoma NA BeFree Detail
<0.001 Adenylosuccinate lyase deficiency (disorder) NA BeFree Detail
<0.001 cervix carcinoma NA BeFree Detail
<0.001 inflammatory myofibroblastic tumor NA BeFree Detail
0.007 Methotrexate poisoning NA GAD Detail
<0.001 malignant pleural mesothelioma NA BeFree Detail
0.002 Drug-Induced Liver Injury NA GAD Detail
0.080 Arthritis, Experimental NA RGD Detail
0.137 rheumatoid arthritis We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A)... BeFree 15457444 Detail
<0.001 Urinary Bladder Inflammatory Myofibroblastic Tumor NA BeFree Detail
<0.001 Cancer Cell Growth NA BeFree Detail
0.002 colorectal cancer NA GAD Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 Juvenile arthritis NA BeFree Detail
<0.001 juvenile rheumatoid arthritis NA BeFree Detail
0.137 rheumatoid arthritis NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 Congenital blindness NA BeFree Detail
<0.001 renal cell carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Analysis of metabolites extracted from red blood cells from 56 LN patients revealed strong variation... 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
This study shows that polymorphisms on genes related to the metabolic pathway of pemetrexed, especia... 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 investigated the contribution of common genetic polymorphisms in RFC-1 (G80A), ATIC (C347G), 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

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
rs386514057 dbSNP
Genome
hg38
Position
chr2:215,312,059-215,349,764
Variant Type
snv
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