chr10:135339605:G>C Detail (hg19) (CYP2E1, LOC110599585)

Information

Genome

Assembly Position
hg19 chr10:135,339,605-135,339,605
hg38 chr10:133,526,101-133,526,101 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000463117.6:c.-117-695G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.210
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance no classification for the single variant
Review star
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 tgv41238039 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2016-04-20 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 Lip and oral cavity carcinoma GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... BeFree 21741876 Detail
0.005 Malignant neoplasm of mouth GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... BeFree 21741876 Detail
0.002 Lip and oral cavity carcinoma GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... BeFree 21741876 Detail
0.008 Lip and oral cavity carcinoma GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... BeFree 21741876 Detail
0.011 Leukoplakia, Oral GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... BeFree 21741876 Detail
0.006 Leukoplakia, Oral GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... BeFree 21741876 Detail
0.012 Malignant neoplasm of mouth GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... BeFree 21741876 Detail
0.016 Malignant neoplasm of mouth GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... BeFree 21741876 Detail
0.042 colorectal cancer Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal can... BeFree 23595220 Detail
0.004 colorectal carcinoma Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal can... BeFree 23595220 Detail
0.006 Leukoplakia We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... BeFree 21741876 Detail
0.006 Leukoplakia We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... BeFree 21741876 Detail
Annotation

Annotations

DescrptionSourceLinks
CYP2E1*5B AND CYP2E1*5B ALLELE ClinVar Detail
GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... DisGeNET Detail
GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... DisGeNET Detail
GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... DisGeNET Detail
GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... DisGeNET Detail
GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... DisGeNET Detail
GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... DisGeNET Detail
GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... DisGeNET Detail
GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... DisGeNET Detail
Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal cancer risk: a systemic... DisGeNET Detail
Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal cancer risk: a systemic... DisGeNET Detail
We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... DisGeNET Detail
We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2031920 dbSNP
Genome
hg19
Position
chr10:135,339,605-135,339,605
Variant Type
snv
Reference Allele
G
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))
rs3813867
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2098
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3517
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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