chr15:41827655:C>T Detail (hg19) (RPAP1)

Information

Genome

Assembly Position
hg19 chr15:41,827,655-41,827,655
hg38 chr15:41,535,457-41,535,457 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_015540.3:c.541+55G>A
Ensemble ENST00000304330.9:c.541+55G>A
ENST00000561603.5:c.541+55G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.618
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 611475 OMIM
HGNC 24567 HGNC
Ensembl ENSG00000103932 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52674433 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
0.005 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.059 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
<0.001 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.022 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
<0.001 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.008 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.021 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.019 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
Annotation

Annotations

DescrptionSourceLinks
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2297381 dbSNP
Genome
hg19
Position
chr15:41,827,655-41,827,655
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))
rs2297381
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.618
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10358
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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