chr15:51237582:G>A Detail (hg38) (CYP19A1)

Information

Genome

Assembly Position
hg19 chr15:51,529,779-51,529,779 View the variant detail on this assembly version.
hg38 chr15:51,237,582-51,237,582

HGVS

Type Transcript Protein
RefSeq NM_000103.3:c.146-573C>T
NM_031226.2:c.146-573C>T
Ensemble ENST00000396402.6: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
Links
Type Database ID Link
Gene MIM 107910 OMIM
HGNC 2594 HGNC
Ensembl ENSG00000137869 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52937571 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
0.008 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

DescrptionSourceLinks
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
hg38
Position
chr15:51,237,582-51,237,582
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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