chr6:151949537:C>T Detail (hg38) (ESR1)

Information

Genome

Assembly Position
hg19 chr6:152,270,672-152,270,672 View the variant detail on this assembly version.
hg38 chr6:151,949,537-151,949,537

HGVS

Type Transcript Protein
RefSeq NM_000125.3:c.1096+5029C>T
NM_001122741.1:c.1096+5029C>T
NM_001291230.1:c.1096+5029C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.215
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 tgv27497422 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
0.240 Malignant neoplasm of breast When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed st... BeFree 25228414 Detail
0.080 breast carcinoma When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed st... BeFree 25228414 Detail
<0.001 Lymphoma, Follicular Four ESR1 SNPs were associated with follicular lymphoma (FL) in the U.S. study, ... BeFree 18636124 Detail
Annotation

Annotations

DescrptionSourceLinks
When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations ... DisGeNET Detail
When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations ... DisGeNET Detail
Four ESR1 SNPs were associated with follicular lymphoma (FL) in the U.S. study, with rs3020314 remai... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3020314 dbSNP
Genome
hg38
Position
chr6:151,949,537-151,949,537
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))
rs3020314
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2155
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3612
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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