chr10:133536297:T>C Detail (hg38) (CYP2E1)

Information

Genome

Assembly Position
hg19 chr10:135,349,801-135,349,801 View the variant detail on this assembly version.
hg38 chr10:133,536,297-133,536,297

HGVS

Type Transcript Protein
RefSeq NM_000773.3:c.968-766T>C
Ensemble ENST00000252945.8:c.968-766T>C
ENST00000463117.6:c.968-766T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.836
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 124040 OMIM
HGNC 2631 HGNC
Ensembl ENSG00000130649 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41238580 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
0.004 colorectal carcinoma A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2... BeFree 19706845 Detail
0.042 colorectal cancer [A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH... GAD 19706845 Detail
0.042 colorectal cancer A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2... BeFree 19706845 Detail
0.004 colorectal carcinoma A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2... BeFree 19706845 Detail
0.025 colorectal cancer A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2... BeFree 19706845 Detail
Annotation

Annotations

DescrptionSourceLinks
A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metaboli... DisGeNET Detail
[A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabol... DisGeNET Detail
A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metaboli... DisGeNET Detail
A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metaboli... DisGeNET Detail
A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metaboli... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1329149 dbSNP
Genome
hg38
Position
chr10:133,536,297-133,536,297
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1329149
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8355
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14003
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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