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 |
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
Descrption | Source | Links |
---|---|---|
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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