chr6:152234593:T>C Detail (hg19) (ESR1)

Information

Genome

Assembly Position
hg19 chr6:152,234,593-152,234,593
hg38 chr6:151,913,458-151,913,458 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000125.3:c.761-30715T>C
NM_001122741.1:c.761-30715T>C
NM_001291230.1:c.761-30715T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.393
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 133430 OMIM
HGNC 3467 HGNC
Ensembl ENSG00000091831 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27496666 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
0.003 dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
<0.001 Mild dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
<0.001 Mild dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.012 dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.002 Presenile dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.003 Presenile dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
Annotation

Annotations

DescrptionSourceLinks
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6557171 dbSNP
Genome
hg19
Position
chr6:152,234,593-152,234,593
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs6557171
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3933
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6592
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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