chr14:64763653:A>G Detail (hg19) (ESR2)

Information

Genome

Assembly Position
hg19 chr14:64,763,653-64,763,653
hg38 chr14:64,296,935-64,296,935 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001291712.1:c.-91+598T>C
NM_001291723.1:c.-90-13860T>C
Ensemble ENST00000554572.5:c.-91+598T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.278
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 601663 OMIM
HGNC 3468 HGNC
Ensembl ENSG00000140009 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51070591 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
0.017 breast carcinoma We examined the association of single nucleotide polymorphism (SNP) in estrogen ... BeFree 24430361 Detail
0.097 Malignant neoplasm of breast We examined the association of single nucleotide polymorphism (SNP) in estrogen ... BeFree 24430361 Detail
0.068 Malignant neoplasm of breast We examined the association of single nucleotide polymorphism (SNP) in estrogen ... BeFree 24430361 Detail
0.030 breast carcinoma We examined the association of single nucleotide polymorphism (SNP) in estrogen ... BeFree 24430361 Detail
0.002 Sporadic Breast Carcinoma With regard to homozygous genotypes, women with sporadic breast cancer more freq... BeFree 19429453 Detail
Annotation

Annotations

DescrptionSourceLinks
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... DisGeNET Detail
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... DisGeNET Detail
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... DisGeNET Detail
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... DisGeNET Detail
With regard to homozygous genotypes, women with sporadic breast cancer more frequently carried the C... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2987983 dbSNP
Genome
hg19
Position
chr14:64,763,653-64,763,653
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2987983
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2777
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4654
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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