chr1:25264658:C>G Detail (hg19) (RUNX3)

Information

Genome

Assembly Position
hg19 chr1:25,264,658-25,264,658
hg38 chr1:24,938,167-24,938,167 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001031680.2:c.59-8315G>C
NM_001320672.1:c.59-8315G>C
Ensemble ENST00000338888.4:c.59-8315G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.809
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 600210 OMIM
HGNC 10473 HGNC
Ensembl ENSG00000020633 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv778196 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
0.090 Malignant neoplasm of breast After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.005 Malignant neoplasm of breast After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.019 breast carcinoma After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.004 breast carcinoma After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.002 breast carcinoma After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.002 Malignant neoplasm of breast After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
Annotation

Annotations

DescrptionSourceLinks
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs906296 dbSNP
Genome
hg19
Position
chr1:25,264,658-25,264,658
Variant Type
snv
Reference Allele
C
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))
rs906296
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8086
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13552
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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