chr10:64219000:G>A Detail (hg19) (ZNF365)

Information

Genome

Assembly Position
hg19 chr10:64,219,000-64,219,000
hg38 chr10:62,459,241-62,459,241 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_199450.2:c.925-500G>A
Ensemble ENST00000395255.7:c.925-500G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.513
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 607818 OMIM
HGNC 18194 HGNC
Ensembl ENSG00000138311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39504439 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
0.121 Mammographic Density Genome-wide association study identifies multiple loci associated with both mamm... GWASCAT 25342443 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association study identifies multiple loci associated with both mammographic density and... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12220488 dbSNP
Genome
hg19
Position
chr10:64,219,000-64,219,000
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs12220488
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5129
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8596
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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