chr2:38070996:T>G Detail (hg38) (CYP1B1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:38,298,139-38,298,139 View the variant detail on this assembly version. |
hg38 | chr2:38,070,996-38,070,996 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000104.3:c.1358A>C | NP_000095.2:p.Asn453Thr |
Ensemble | ENST00000490576.2:c.1358A>C | ENST00000490576.2:p.Asn453Thr |
ENST00000494864.1:c.245A>C | ENST00000494864.1:p.Asn82Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.006 | prostate carcinoma | According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and... | BeFree | 24682418 | Detail |
0.005 | prostate carcinoma | According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and... | BeFree | 24682418 | Detail |
0.041 | Malignant neoplasm of prostate | According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and... | BeFree | 24682418 | Detail |
0.021 | Malignant neoplasm of prostate | According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and... | BeFree | 24682418 | Detail |
0.017 | endometrial carcinoma | The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymor... | BeFree | 20381444 | Detail |
0.017 | breast carcinoma | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (he... | BeFree | 22418777 | Detail |
0.001 | endometrial carcinoma | The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymor... | BeFree | 20381444 | Detail |
0.097 | Malignant neoplasm of breast | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (he... | BeFree | 22418777 | Detail |
0.017 | breast carcinoma | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (he... | BeFree | 22418777 | Detail |
<0.001 | Malignant neoplasm of endometrium | The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymor... | BeFree | 20381444 | Detail |
0.003 | Malignant neoplasm of endometrium | The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymor... | BeFree | 20381444 | Detail |
0.008 | Mammographic Density | [After multivariate adjustment, the CYP1B1 rs162555 CC genotype was associated w... | GAD | 19630952 | Detail |
0.097 | Malignant neoplasm of breast | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (he... | BeFree | 22418777 | Detail |
0.003 | colorectal carcinoma | Carriers of variant Ser allele in codon 453 of cytochrome P450 1B1 (rs1800440) w... | BeFree | 20878130 | Detail |
0.030 | colorectal cancer | Carriers of variant Ser allele in codon 453 of cytochrome P450 1B1 (rs1800440) w... | BeFree | 20878130 | Detail |
0.001 | uterine corpus cancer | The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymor... | BeFree | 20381444 | Detail |
0.003 | uterine corpus cancer | The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymor... | BeFree | 20381444 | Detail |
<0.001 | Gastrointestinal Stromal Tumors | Although none of the association p-values were statistically significant after a... | BeFree | 23637977 | Detail |
0.760 | Gastrointestinal Stromal Tumors | Although none of the association p-values were statistically significant after a... | BeFree | 23637977 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535... | DisGeNET | Detail |
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535... | DisGeNET | Detail |
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535... | DisGeNET | Detail |
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535... | DisGeNET | Detail |
The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymorphism were associate... | DisGeNET | Detail |
We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and with... | DisGeNET | Detail |
The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymorphism were associate... | DisGeNET | Detail |
We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and with... | DisGeNET | Detail |
We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and with... | DisGeNET | Detail |
The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymorphism were associate... | DisGeNET | Detail |
The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymorphism were associate... | DisGeNET | Detail |
[After multivariate adjustment, the CYP1B1 rs162555 CC genotype was associated with a 9.4% higher ma... | DisGeNET | Detail |
We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and with... | DisGeNET | Detail |
Carriers of variant Ser allele in codon 453 of cytochrome P450 1B1 (rs1800440) were at a significant... | DisGeNET | Detail |
Carriers of variant Ser allele in codon 453 of cytochrome P450 1B1 (rs1800440) were at a significant... | DisGeNET | Detail |
The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymorphism were associate... | DisGeNET | Detail |
The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymorphism were associate... | DisGeNET | Detail |
Although none of the association p-values were statistically significant after adjustment for multip... | DisGeNET | Detail |
Although none of the association p-values were statistically significant after adjustment for multip... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg38
- Position
- chr2:38,070,996-38,070,996
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121388
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.238046594391538E-6
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