chr14:68232877:C>T Detail (hg38) (RAD51B)

Information

Genome

Assembly Position
hg19 chr14:68,699,594-68,699,594 View the variant detail on this assembly version.
hg38 chr14:68,232,877-68,232,877

HGVS

Type Transcript Protein
RefSeq NM_001321812.1:c.757-59007C>T
NM_001321817.1:c.757-59007C>T
NM_133510.3:c.757-59007C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.022
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 602948 OMIM
HGNC 9822 HGNC
Ensembl ENSG00000182185 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51163051 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
0.002 atrial fibrillation [No association attained genome-wide significance, but several intriguing findin... GAD 17903304 Detail
0.132 Malignant neoplasm of breast Genome-wide association study identifies a common variant in RAD51B associated w... GWASCAT 23001122 Detail
0.360 Malignant neoplasm of breast Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 str... BeFree 26248686 Detail
0.080 breast carcinoma Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 str... BeFree 26248686 Detail
Annotation

Annotations

DescrptionSourceLinks
[No association attained genome-wide significance, but several intriguing findings emerged. Notably,... DisGeNET Detail
Genome-wide association study identifies a common variant in RAD51B associated with male breast canc... DisGeNET Detail
Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 strongly influence BC r... DisGeNET Detail
Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 strongly influence BC r... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1314913 dbSNP
Genome
hg38
Position
chr14:68,232,877-68,232,877
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))
rs1314913
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0223
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
373
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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