chr8:9743407:T>C Detail (hg38) (TNKS)

Information

Genome

Assembly Position
hg19 chr8:9,600,917-9,600,917 View the variant detail on this assembly version.
hg38 chr8:9,743,407-9,743,407

HGVS

Type Transcript Protein
RefSeq NM_003747.2:c.2644-4617T>C
Ensemble ENST00000310430.11:c.2644-4617T>C
ENST00000517770.2:c.2644-4617T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.386
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 603303 OMIM
HGNC 11941 HGNC
Ensembl ENSG00000173273 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32057654 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 asthma [A second-generation genomewide screen for asthma-susceptibility alleles in a fo... GAD 11022011 Detail
Annotation

Annotations

DescrptionSourceLinks
[A second-generation genomewide screen for asthma-susceptibility alleles in a founder population.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9644708 dbSNP
Genome
hg38
Position
chr8:9,743,407-9,743,407
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))
rs9644708
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3858
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6466
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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