chr7:18140361:A>T Detail (hg19) (HDAC9)

Information

Genome

Assembly Position
hg19 chr7:18,140,361-18,140,361
hg38 chr7:18,100,738-18,100,738 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001204144.2:c.-97+13525A>T
NM_001321871.1:c.-97+13525A>T
NM_001321872.1:c.-97+13525A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.940
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 606543 OMIM
HGNC 14065 HGNC
Ensembl ENSG00000048052 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv28492795 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 colorectal carcinoma No single nucleotide polymorphism (SNP) achieved a genome-wide significant P val... BeFree 23677573 Detail
0.002 colorectal cancer No single nucleotide polymorphism (SNP) achieved a genome-wide significant P val... BeFree 23677573 Detail
0.002 colorectal carcinoma No single nucleotide polymorphism (SNP) achieved a genome-wide significant P val... BeFree 23677573 Detail
0.004 colorectal cancer No single nucleotide polymorphism (SNP) achieved a genome-wide significant P val... BeFree 23677573 Detail
Annotation

Annotations

DescrptionSourceLinks
No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the mos... DisGeNET Detail
No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the mos... DisGeNET Detail
No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the mos... DisGeNET Detail
No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the mos... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1919314 dbSNP
Genome
hg19
Position
chr7:18,140,361-18,140,361
Variant Type
snv
Reference Allele
A
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))
rs1919314
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9401
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15755
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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