chr15:51529779:G>A Detail (hg19) (CYP19A1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:51,529,779-51,529,779 |
hg38 | chr15:51,237,582-51,237,582 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000103.3:c.146-573C>T | |
NM_031226.2:c.146-573C>T | ||
Ensemble | ENST00000559878.5:c.146-573C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.355 | |
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 |
---|---|---|---|---|---|
0.008 | gynecomastia | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2... | BeFree | 24625355 | Detail |
<0.001 | gynecomastia | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2... | BeFree | 24625355 | Detail |
0.123 | Ovarian Diseases | Our data suggest that SNP rs2414096 in the CYP19 gene is associated with suscept... | BeFree | 20015405 | Detail |
0.228 | polycystic ovary syndrome | Association between CYP19 gene SNP rs2414096 polymorphism and polycystic ovary s... | BeFree | 20015405 | Detail |
0.003 | hyperandrogenism | Several studies have reported the association of the SNP rs2414096 in the CYP19 ... | BeFree | 20015405 | Detail |
0.003 | hyperandrogenism | [Association of aromatase (CYP 19) gene variation with features of hyperandrogen... | GAD | 15802318 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (r... | DisGeNET | Detail |
Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (r... | DisGeNET | Detail |
Our data suggest that SNP rs2414096 in the CYP19 gene is associated with susceptibility to PCOS. | DisGeNET | Detail |
Association between CYP19 gene SNP rs2414096 polymorphism and polycystic ovary syndrome in Chinese w... | DisGeNET | Detail |
Several studies have reported the association of the SNP rs2414096 in the CYP19 gene with hyperandro... | DisGeNET | Detail |
[Association of aromatase (CYP 19) gene variation with features of hyperandrogenism in two populatio... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2414096 dbSNP
- Genome
- hg19
- Position
- chr15:51,529,779-51,529,779
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs2414096
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3554
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5957
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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