chr10:80841148:T>C Detail (hg19) (ZMIZ1)

Information

Genome

Assembly Position
hg19 chr10:80,841,148-80,841,148
hg38 chr10:79,081,391-79,081,391 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020338.3:c.-337+12121T>C
Ensemble ENST00000334512.10:c.-337+12121T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.722
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 607159 OMIM
HGNC 16493 HGNC
Ensembl ENSG00000108175 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39902855 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
0.080 breast carcinoma Index SNPs in five loci were replicated, including three associated with ER-/PR-... BeFree 23136140 Detail
0.132 Malignant neoplasm of breast Index SNPs in five loci were replicated, including three associated with ER-/PR-... BeFree 23136140 Detail
0.009 breast carcinoma Index SNPs in five loci were replicated, including three associated with ER-/PR-... BeFree 23136140 Detail
0.138 Malignant neoplasm of breast Index SNPs in five loci were replicated, including three associated with ER-/PR-... BeFree 23136140 Detail
<0.001 breast carcinoma Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.023 breast carcinoma Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.043 Malignant neoplasm of breast Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.121 Malignant neoplasm of breast Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.121 Malignant neoplasm of breast Genome-wide association study identifies five new breast cancer susceptibility l... GWASCAT 20453838 Detail
0.121 Malignant neoplasm of breast Large-scale genotyping identifies 41 new loci associated with breast cancer risk... GWASCAT 23535729 Detail
Annotation

Annotations

DescrptionSourceLinks
Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT... DisGeNET Detail
Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT... DisGeNET Detail
Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT... DisGeNET Detail
Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Genome-wide association study identifies five new breast cancer susceptibility loci. 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
rs704010 dbSNP
Genome
hg19
Position
chr10:80,841,148-80,841,148
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs704010
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7217
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12095
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser