chr15:75017176:C>A Detail (hg19) (CYP1A1)

Information

Genome

Assembly Position
hg19 chr15:75,017,176-75,017,176
hg38 chr15:74,724,835-74,724,835 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000499.4:c.-30+606G>T
NM_001319217.1:c.-30+606G>T
NM_001319216.1:c.-27+606G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.039
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 108330 OMIM
HGNC 2595 HGNC
Ensembl ENSG00000140465 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53545752 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 vascular disease occlusive All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
0.337 hyperhomocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
<0.001 hyperhomocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
0.146 Homocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
<0.001 Homocysteinemia All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... BeFree 23107763 Detail
<0.001 Nosocomial pneumonia In the group of nosocomial pneumonia (NP; 268 patients) the risk of acute respir... BeFree 24127120 Detail
<0.001 Brain Neoplasms The increased risk of brain tumors was evident for CYP1A1 rs2606345 (P = 0.0028;... BeFree 23661361 Detail
<0.001 Carcinoma of ampulla of Vater The CYP1A1 IVS1 + 606 (rs2606345) T allele was associated with gallbladder [odds... BeFree 19168589 Detail
<0.001 Depressive Symptoms Among Caucasian women, those with the CYP1A1 rs2606345 CC and AC genotypes had a... BeFree 16949393 Detail
0.124 Malignant neoplasm of lung Moreover, the association between CYP1A1 rs2606345 genotype and lung cancer was ... BeFree 19479063 Detail
0.007 Mammographic Density [The positive association between CYP1A1 rs2606345 and mammographic density was ... GAD 19630952 Detail
0.007 Mammographic Density The positive association between CYP1A1 rs2606345 and mammographic density was s... BeFree 19630952 Detail
0.044 Carcinoma of lung Moreover, the association between CYP1A1 rs2606345 genotype and lung cancer was ... BeFree 19479063 Detail
Annotation

Annotations

DescrptionSourceLinks
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... DisGeNET Detail
In the group of nosocomial pneumonia (NP; 268 patients) the risk of acute respiratory distress syndr... DisGeNET Detail
The increased risk of brain tumors was evident for CYP1A1 rs2606345 (P = 0.0028; OR = 2.06; 95 % CI,... DisGeNET Detail
The CYP1A1 IVS1 + 606 (rs2606345) T allele was associated with gallbladder [odds ratio (OR) = 2.0, 9... DisGeNET Detail
Among Caucasian women, those with the CYP1A1 rs2606345 CC and AC genotypes had approximately 2-fold ... DisGeNET Detail
Moreover, the association between CYP1A1 rs2606345 genotype and lung cancer was significantly modifi... DisGeNET Detail
[The positive association between CYP1A1 rs2606345 and mammographic density was significantly strong... DisGeNET Detail
The positive association between CYP1A1 rs2606345 and mammographic density was significantly stronge... DisGeNET Detail
Moreover, the association between CYP1A1 rs2606345 genotype and lung cancer was significantly modifi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2606345 dbSNP
Genome
hg19
Position
chr15:75,017,176-75,017,176
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))
rs2606345
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0391
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
655
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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