chr15:74749576:C>A Detail (hg38) (CYP1A2, LOC110467516)

Information

Genome

Assembly Position
hg19 chr15:75,041,917-75,041,917 View the variant detail on this assembly version.
hg38 chr15:74,749,576-74,749,576

HGVS

Type Transcript Protein
RefSeq NM_000761.4:c.-9-154C>A
Ensemble ENST00000343932.5:c.-9-154C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.638
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 124060 OMIM
HGNC 2596 HGNC
Ensembl ENSG00000140505 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53546346 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2018-03-09 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.024 Malignant neoplasm of lung These results suggest that the rs3569413 polymorphism of the CYP1A2 gene is asso... BeFree 23462460 Detail
0.005 Carcinoma of lung These results suggest that the rs3569413 polymorphism of the CYP1A2 gene is asso... BeFree 23462460 Detail
0.005 Carcinogenesis We studied the role of CYP2E1, CYP1A2 (rs762551), and CYP1A1 (rs4646903) polymor... BeFree 23686565 Detail
0.002 Carcinogenesis We studied the role of CYP2E1, CYP1A2 (rs762551), and CYP1A1 (rs4646903) polymor... BeFree 23686565 Detail
0.009 Carcinogenesis We studied the role of CYP2E1, CYP1A2 (rs762551), and CYP1A1 (rs4646903) polymor... BeFree 23686565 Detail
0.003 Helicobacter pylori infection We studied the role of CYP2E1, CYP1A2 (rs762551), and CYP1A1 (rs4646903) polymor... BeFree 23686565 Detail
0.024 Malignant neoplasm of lung CYP1A2 rs762551 polymorphism contributes to risk of lung cancer: a meta-analysis... BeFree 24293373 Detail
0.005 Carcinoma of lung CYP1A2 rs762551 polymorphism contributes to risk of lung cancer: a meta-analysis... BeFree 24293373 Detail
0.122 Neural Tube Defects [The association identified between maternal CYP1A2*1F fast oxidation status and... GAD 20641098 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000761.5(CYP1A2):c.-9-154C>A AND not specified ClinVar Detail
These results suggest that the rs3569413 polymorphism of the CYP1A2 gene is associated with an incre... DisGeNET Detail
These results suggest that the rs3569413 polymorphism of the CYP1A2 gene is associated with an incre... DisGeNET Detail
We studied the role of CYP2E1, CYP1A2 (rs762551), and CYP1A1 (rs4646903) polymorphisms in associatio... DisGeNET Detail
We studied the role of CYP2E1, CYP1A2 (rs762551), and CYP1A1 (rs4646903) polymorphisms in associatio... DisGeNET Detail
We studied the role of CYP2E1, CYP1A2 (rs762551), and CYP1A1 (rs4646903) polymorphisms in associatio... DisGeNET Detail
We studied the role of CYP2E1, CYP1A2 (rs762551), and CYP1A1 (rs4646903) polymorphisms in associatio... DisGeNET Detail
CYP1A2 rs762551 polymorphism contributes to risk of lung cancer: a meta-analysis. DisGeNET Detail
CYP1A2 rs762551 polymorphism contributes to risk of lung cancer: a meta-analysis. DisGeNET Detail
[The association identified between maternal CYP1A2*1F fast oxidation status and NTDs should be exam... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs762551 dbSNP
Genome
hg38
Position
chr15:74,749,576-74,749,576
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs762551
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6383
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10698
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser