chr5:158817075:C>T Detail (hg38) (EBF1)

Information

Genome

Assembly Position
hg19 chr5:158,244,083-158,244,083 View the variant detail on this assembly version.
hg38 chr5:158,817,075-158,817,075

HGVS

Type Transcript Protein
RefSeq NM_001290360.2:c.778+6101G>A
NM_001324101.1:c.778+6101G>A
NM_001324103.1:c.778+6101G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.333
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 164343 OMIM
HGNC 3126 HGNC
Ensembl ENSG00000164330 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23447550 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
<0.001 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
<0.001 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.120 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.080 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.002 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.122 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
<0.001 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.240 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.120 Malignant neoplasm of breast Large-scale genotyping identifies 41 new loci associated with breast cancer risk... GWASCAT 23535729 Detail
Annotation

Annotations

DescrptionSourceLinks
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1432679 dbSNP
Genome
hg38
Position
chr5:158,817,075-158,817,075
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))
rs1432679
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3334
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5588
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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