chr6:52750087:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:52,614,885-52,628,273 
hg38 chr6:52,750,087-52,763,475

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
0.005 Esophageal Neoplasms NA GAD Detail
0.005 Head and Neck Neoplasms NA GAD Detail
<0.001 ischemia NA BeFree Detail
0.005 Laryngeal neoplasm NA GAD Detail
0.002 chronic lymphocytic leukemia NA GAD Detail
0.120 Liver Cirrhosis, Experimental NA CTD_human Detail
0.002 Mesothelioma NA GAD Detail
0.005 Mouth Neoplasms NA GAD Detail
0.005 Pharyngeal Neoplasms NA GAD Detail
0.002 Pleural Neoplasms NA GAD Detail
0.005 Malignant neoplasm of lung Heterozygote carriers of SNPs in CYP1A2 1545T&gt;C, -164C&gt;A and -740T&gt;G; C... BeFree 17259654 Detail
<0.001 Carcinoma of lung Heterozygote carriers of SNPs in CYP1A2 1545T&gt;C, -164C&gt;A and -740T&gt;G; C... BeFree 17259654 Detail
0.005 Malignant neoplasm of lung NA BeFree,GAD Detail
0.002 Malignant neoplasm of prostate NA GAD Detail
0.002 Malignant neoplasm of esophagus NA GAD Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
0.002 Genomic Instability NA GAD Detail
0.002 colorectal cancer NA GAD Detail
0.003 Malignant neoplasm of breast NA BeFree,GAD 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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Heterozygote carriers of SNPs in CYP1A2 1545T&gt;C, -164C&gt;A and -740T&gt;G; CYP2A6 -47A&gt;C; MDR... DisGeNET Detail
Heterozygote carriers of SNPs in CYP1A2 1545T&gt;C, -164C&gt;A and -740T&gt;G; CYP2A6 -47A&gt;C; MDR... 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
rs386545618 dbSNP
Genome
hg38
Position
chr6:52,750,087-52,763,475
Variant Type
snv
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