chr8:18210109:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr8:18,067,618-18,081,198 
hg38 chr8:18,210,109-18,223,689

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
0.006 squamous cell carcinoma NAT1 and NAT2 genetic polymorphisms and environmental exposure as risk factors f... BeFree,GAD 25886288 Detail
0.002 Carcinoma, Transitional Cell NA GAD Detail
0.122 Chromosome Aberrations NA CTD_human,GAD Detail
<0.001 Congenital chromosomal disease NA BeFree Detail
0.007 cleft lip NA GAD Detail
0.007 cleft palate NA GAD Detail
0.002 Congenital clubfoot NA GAD Detail
0.005 ulcerative colitis NA GAD Detail
0.005 Colonic Neoplasms NA BeFree,GAD Detail
0.005 Colonic Polyps NA GAD Detail
0.003 colorectal carcinoma NA BeFree Detail
0.009 Colorectal Neoplasms NA BeFree,LHGDN Detail
0.002 Connective Tissue Diseases NA GAD Detail
0.002 DNA Damage NA GAD Detail
0.002 Disorder of eye NA GAD Detail
0.002 Fetal Diseases NA GAD Detail
0.007 Head and Neck Neoplasms NA GAD Detail
0.002 hepatitis NA GAD Detail
0.002 hepatitis B NA GAD Detail
0.002 hepatitis C NA GAD Detail
0.002 Hypersensitivity NA GAD Detail
0.007 Inflammation NA GAD,LHGDN Detail
0.002 Jaw Abnormalities NA GAD Detail
0.005 Laryngeal neoplasm NA GAD,LHGDN Detail
0.003 leukemia NA LHGDN Detail
0.005 chronic lymphocytic leukemia NA GAD Detail
0.002 Leukemia, Myelocytic, Acute NA GAD Detail
<0.001 acute promyelocytic leukemia NA BeFree Detail
0.005 Liver neoplasms NA GAD Detail
0.083 Lung Neoplasms NA BeFree,GAD,RGD Detail
0.003 Lupus Erythematosus, Systemic NA LHGDN Detail
0.003 Lymphoma, Follicular NA BeFree,GAD Detail
0.020 Lymphoma, Non-Hodgkin NA BeFree,GAD,LHGDN Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
0.002 Mesothelioma NA GAD Detail
0.002 Musculoskeletal Diseases NA GAD Detail
0.002 Neoplasm Recurrence, Local NA GAD Detail
0.003 neuroblastoma NA BeFree,GAD Detail
0.122 Dermatitis, Occupational NA CTD_human,GAD Detail
0.005 Pancreatic Neoplasm NA GAD Detail
0.120 Peripheral neuropathy NA CTD_human Detail
0.002 Pleural Neoplasms NA GAD Detail
0.002 Pregnancy Complications, Hematologic NA GAD Detail
0.125 Prostatic Neoplasms NA CTD_human,LHGDN Detail
0.003 psoriasis NA LHGDN Detail
0.002 Rectal Neoplasms NA GAD Detail
0.002 Respiratory Tract Diseases NA GAD Detail
0.002 schizophrenia NA GAD Detail
0.002 Dermatologic disorders NA GAD Detail
0.003 Stomach Neoplasms NA BeFree,GAD Detail
0.120 Adverse reaction to drug NA CTD_human Detail
0.012 Malignant neoplasm of lung Heterozygote carriers of SNPs in CYP1A2 1545T&gt;C, -164C&gt;A and -740T&gt;G; C... BeFree 17259654 Detail
0.002 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 T-Cell Lymphoma NA BeFree Detail
0.011 spina bifida NA BeFree,GAD,LHGDN Detail
0.002 motor neuron disease NA GAD Detail
0.002 Neoplasms, Second Primary NA GAD Detail
0.002 Congenital musculoskeletal anomalies NA GAD Detail
0.007 Premature Birth NA GAD Detail
<0.001 Cleft palate with cleft lip NA BeFree Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.012 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.005 cholangiocarcinoma NA GAD,LHGDN Detail
0.001 pancreatic carcinoma NA BeFree Detail
0.012 Malignant neoplasm of lung NA BeFree,GAD Detail
0.005 multiple chemical sensitivity NA GAD Detail
0.002 Carcinoma, Small Cell NA GAD Detail
<0.001 Asthma, Occupational NA BeFree Detail
0.006 Cancer of Head and Neck NA BeFree,GAD Detail
<0.001 Hyperplastic Polyp NA BeFree Detail
0.008 Malignant neoplasm of pancreas NA BeFree,GAD Detail
0.018 Malignant neoplasm of prostate NA BeFree,GAD Detail
0.002 body mass NA GAD Detail
0.002 Hepatitis B, Chronic NA GAD Detail
<0.001 Malignant neoplasm of esophagus We hypothesized that NAT1 and NAT2 genetic polymorphisms may influence the risk ... BeFree 25886288 Detail
0.002 Carcinogenesis NA BeFree Detail
0.001 prostate carcinoma NA BeFree Detail
0.003 breast carcinoma We report that miR-1290 directly targets the NAT1 3'-UTR and that NAT1 protein e... BeFree 25528056 Detail
0.002 Carcinoma of lung NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
0.004 Carcinoma of bladder NA BeFree Detail
<0.001 Central neuroblastoma NA BeFree Detail
<0.001 early pregnancy NA BeFree Detail
<0.001 Malignant Squamous Cell Neoplasm NA BeFree Detail
0.003 Cleft lip with or without cleft palate NA BeFree,GAD Detail
0.002 Sleep Disorders NA GAD Detail
0.002 Carcinoma, Pancreatic Ductal NA GAD Detail
0.002 Genomic Instability NA GAD Detail
<0.001 Polyp of large intestine NA BeFree Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 Adenoma of large intestine NA BeFree Detail
<0.001 chronic lymphocytic leukemia/small lymphocytic lymphoma NA BeFree Detail
0.009 Mammary Neoplasms NA BeFree,LHGDN Detail
<0.001 Cancer Cell Growth NA BeFree Detail
0.050 colorectal cancer NA BeFree,GAD Detail
0.001 Slow acetylator due to N-acetyltransferase enzyme variant NA BeFree Detail
0.001 Fast acetylator due to N-acetyltransferase enzyme variant NA BeFree Detail
0.005 liver carcinoma NA BeFree,GAD Detail
0.002 Chronic ulcerative colitis NA GAD Detail
<0.001 orofacial cleft NA BeFree Detail
<0.001 Allergic disposition NA BeFree Detail
0.002 Infection NA GAD Detail
0.005 Congenital Abnormality NA GAD Detail
0.005 adenocarcinoma NA GAD,LHGDN Detail
<0.001 adenoma NA BeFree Detail
0.003 Alcoholic Intoxication, Chronic NA BeFree,GAD Detail
0.005 Alzheimer's disease NA GAD Detail
0.002 Amnesia NA GAD Detail
0.005 asthma NA BeFree,GAD,LHGDN Detail
0.030 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.133 Bladder Neoplasm NA CTD_human,GAD,LHGDN Detail
0.027 Malignant neoplasm of breast We report that miR-1290 directly targets the NAT1 3'-UTR and that NAT1 protein e... BeFree,GAD 25528056 Detail
<0.001 candidiasis In multivariate analysis, concomitant use of fluconazole for candidiasis was the... BeFree 25184238 Detail
<0.001 Malignant tumor of colon NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NAT1 and NAT2 genetic polymorphisms and environmental exposure as risk factors for oesophageal squam... DisGeNET Detail
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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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However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
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We hypothesized that NAT1 and NAT2 genetic polymorphisms may influence the risk of oesophageal cance... DisGeNET Detail
NA DisGeNET Detail
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We report that miR-1290 directly targets the NAT1 3'-UTR and that NAT1 protein expression is correla... DisGeNET Detail
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We report that miR-1290 directly targets the NAT1 3'-UTR and that NAT1 protein expression is correla... DisGeNET Detail
In multivariate analysis, concomitant use of fluconazole for candidiasis was the only factor associa... 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
chr8:18,210,109-18,223,689
Variant Type
snv
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