chr19:40843541:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr19:41,349,446-41,356,352 
hg38 chr19:40,843,541-40,850,447

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
0.003 squamous cell carcinoma NA BeFree,GAD Detail
<0.001 Colonic Neoplasms NA BeFree Detail
<0.001 colorectal carcinoma NA BeFree Detail
0.126 Colorectal Neoplasms NA BeFree,CTD_human,LHGDN Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
0.002 Drug toxicity NA GAD Detail
0.002 Pathological accumulation of air in tissues NA GAD Detail
0.002 epilepsy NA GAD Detail
0.010 Esophageal Neoplasms NA BeFree,GAD Detail
0.002 Fetal Growth Retardation NA GAD Detail
0.002 Growth Disorders NA GAD Detail
0.005 Head and Neck Neoplasms NA GAD Detail
0.003 hepatitis NA LHGDN Detail
0.120 hepatitis B NA CTD_human Detail
0.120 hepatitis C NA BeFree,CTD_human Detail
0.012 HIV Infections NA BeFree,GAD Detail
<0.001 Hypertensive disease NA BeFree Detail
<0.001 Kidney Diseases NA BeFree Detail
0.005 Laryngeal neoplasm NA GAD Detail
<0.001 liver cirrhosis NA BeFree Detail
<0.001 Liver diseases NA BeFree Detail
0.120 Liver Diseases, Parasitic NA CTD_human Detail
0.080 Liver Neoplasms, Experimental NA CTD_mouse Detail
<0.001 Chronic Obstructive Airway Disease NA BeFree Detail
0.133 Lung Neoplasms NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 lymphedema NA BeFree Detail
0.005 Malignant neoplasm of stomach NA GAD Detail
0.002 Mesothelioma NA GAD Detail
0.007 Mouth Neoplasms NA GAD,LHGDN Detail
<0.001 Myotonic dystrophy NA BeFree Detail
0.120 Nasopharyngeal Neoplasms NA CTD_human Detail
0.003 Neoplasm Metastasis NA BeFree,GAD Detail
0.005 nicotine dependence Genotyping results suggested that nicotine dependence among current smokers homo... BeFree,GAD 25526961 Detail
<0.001 obesity NA BeFree Detail
0.120 opisthorchiasis NA CTD_human Detail
0.005 Pharyngeal Neoplasms NA GAD Detail
0.002 Pleural Neoplasms NA GAD Detail
0.002 Pregnancy Complications NA GAD Detail
0.120 Prostatic Neoplasms NA CTD_human Detail
0.120 pulmonary emphysema NA BeFree,CTD_human Detail
0.120 Stomach Neoplasms NA CTD_human Detail
0.004 Tobacco Dependence No significant difference of tobacco dependence between normal and reduced metab... BeFree,GAD 25683822 Detail
0.125 Tobacco use disorder NA CTD_human,GAD Detail
0.033 Malignant neoplasm of lung Heterozygote carriers of SNPs in CYP1A2 1545T&gt;C, -164C&gt;A and -740T&gt;G; C... BeFree 17259654 Detail
0.007 Carcinoma of lung Heterozygote carriers of SNPs in CYP1A2 1545T&gt;C, -164C&gt;A and -740T&gt;G; C... BeFree 17259654 Detail
<0.001 Withdrawal Symptoms NA BeFree Detail
<0.001 esophageal carcinoma NA BeFree Detail
0.003 Malignant neoplasm of mouth NA BeFree,GAD Detail
0.120 Carcinoma, Large Cell NA CTD_human Detail
<0.001 Lip and oral cavity carcinoma NA BeFree Detail
<0.001 pancreatic carcinoma NA BeFree Detail
0.002 Cancer of Nasopharynx NA GAD Detail
0.033 Malignant neoplasm of lung CYP2A6 reduced activity gene variants confer reduction in lung cancer risk in Af... BeFree,GAD 25416559 Detail
0.120 Disease Progression NA CTD_human Detail
0.120 Carcinoma, Small Cell NA BeFree,CTD_human Detail
<0.001 Malignant neoplasm of stomach stage IV NA BeFree Detail
<0.001 gastric adenocarcinoma NA BeFree Detail
0.003 Cancer of Head and Neck NA BeFree,GAD Detail
0.121 Squamous cell carcinoma of esophagus NA BeFree,CTD_human Detail
<0.001 Chronic liver disease NA BeFree Detail
0.003 Malignant neoplasm of pancreas NA BeFree,GAD Detail
<0.001 Non-alcoholic Fatty Liver Disease NA BeFree Detail
<0.001 Congenital Myotonic Dystrophy NA BeFree Detail
0.015 Malignant neoplasm of esophagus NA BeFree,GAD Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
0.007 Carcinoma of lung CYP2A6 reduced activity gene variants confer reduction in lung cancer risk in Af... BeFree 25416559 Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
0.120 Coumarin Resistance NA CTD_human Detail
0.200 Drug-Induced Liver Injury NA CTD_human,CTD_mouse Detail
0.002 Genomic Instability NA GAD Detail
0.002 Malignant neoplasm of ovary NA GAD Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
0.002 attention deficit hyperactivity disorder NA GAD Detail
0.008 colorectal cancer NA BeFree,GAD Detail
<0.001 Cirrhosis NA BeFree Detail
0.120 TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) NA CTD_human Detail
0.120 Lung cancer, protection against NA CLINVAR Detail
0.003 liver carcinoma NA BeFree,GAD Detail
<0.001 Nasopharyngeal carcinoma NA BeFree Detail
0.124 adenocarcinoma NA BeFree,CTD_human,LHGDN Detail
<0.001 adenoma NA BeFree Detail
<0.001 Alcoholic Intoxication, Chronic NA BeFree Detail
0.002 As If Personality NA GAD Detail
0.003 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.120 Brain Diseases NA CTD_human Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
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Genotyping results suggested that nicotine dependence among current smokers homozygous for the SLC6A... DisGeNET Detail
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No significant difference of tobacco dependence between normal and reduced metabolizers of CYP2A6 ge... 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
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CYP2A6 reduced activity gene variants confer reduction in lung cancer risk in African American smoke... DisGeNET Detail
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CYP2A6 reduced activity gene variants confer reduction in lung cancer risk in African American smoke... DisGeNET Detail
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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
chr19:40,843,541-40,850,447
Variant Type
snv
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