chr15:51536022:C>T Detail (hg19) (CYP19A1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:51,536,022-51,536,022 |
hg38 | chr15:51,243,825-51,243,825 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_031226.2:c.-38-875G>A | |
NM_000103.3:c.-38-875G>A | ||
Ensemble | ENST00000557858.5:c.-38-875G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.342 | |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.033 | breast carcinoma | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
0.114 | Malignant neoplasm of breast | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
0.004 | breast carcinoma | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
0.080 | breast carcinoma | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
0.028 | Malignant neoplasm of breast | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
0.132 | Malignant neoplasm of breast | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs4775936 dbSNP
- Genome
- hg19
- Position
- chr15:51,536,022-51,536,022
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs4775936
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3415
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5724
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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