chr15:51243825:C>T Detail (hg38) (CYP19A1)

Information

Genome

Assembly Position
hg19 chr15:51,536,022-51,536,022 View the variant detail on this assembly version.
hg38 chr15:51,243,825-51,243,825

HGVS

Type Transcript Protein
RefSeq NM_000103.3:c.-38-875G>A
NM_031226.2:c.-38-875G>A
Ensemble ENST00000396402.6: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
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 tgv52937719 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
0.033 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

DescrptionSourceLinks
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
hg38
Position
chr15:51,243,825-51,243,825
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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