chr10:129527035:C>T Detail (hg38) (MGMT)

Information

Genome

Assembly Position
hg19 chr10:131,325,299-131,325,299 View the variant detail on this assembly version.
hg38 chr10:129,527,035-129,527,035

HGVS

Type Transcript Protein
RefSeq NM_002412.4:c.82-9206C>T
Ensemble ENST00000306010.8:c.82-9206C>T
ENST00000651593.1:c.-12-9206C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.052
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 156569 OMIM
HGNC 7059 HGNC
Ensembl ENSG00000170430 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41114420 TogoVar
COSMIC
MONDO
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 neoplasm of lung The association between lung cancer risk and 2 polymorphisms, rs12268840 and rs2... BeFree 17957803 Detail
<0.001 gastroesophageal reflux disease Homozygous carriers of MGMT rs12268840 with frequent acid reflux had significant... BeFree 18386788 Detail
<0.001 Carcinoma of lung The association between lung cancer risk and 2 polymorphisms, rs12268840 and rs2... BeFree 17957803 Detail
Annotation

Annotations

DescrptionSourceLinks
The association between lung cancer risk and 2 polymorphisms, rs12268840 and rs2308327 (codon K178R)... DisGeNET Detail
Homozygous carriers of MGMT rs12268840 with frequent acid reflux had significantly higher risks of E... DisGeNET Detail
The association between lung cancer risk and 2 polymorphisms, rs12268840 and rs2308327 (codon K178R)... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12268840 dbSNP
Genome
hg38
Position
chr10:129,527,035-129,527,035
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs12268840
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.052
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
871
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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