chr14:91841069:A>G Detail (hg19) (CCDC88C)

Information

Genome

Assembly Position
hg19 chr14:91,841,069-91,841,069
hg38 chr14:91,374,725-91,374,725 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001080414.3:c.271-15014T>C
Ensemble ENST00000389857.11:c.271-15014T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.094
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 611204 OMIM
HGNC 19967 HGNC
Ensembl ENSG00000015133 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51707161 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 Malignant neoplasm of breast Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
<0.001 breast carcinoma Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
0.120 Malignant neoplasm of breast Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
0.023 breast carcinoma Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
<0.001 breast carcinoma Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
0.043 Malignant neoplasm of breast Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 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
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... 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
rs941764 dbSNP
Genome
hg19
Position
chr14:91,841,069-91,841,069
Variant Type
snv
Reference Allele
A
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))
rs941764
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0943
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1580
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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