chr8:129465577:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr8:130,477,823-130,477,823 View the variant detail on this assembly version.
hg38 chr8:129,465,577-129,465,577

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.813
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 glioblastoma We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM an... BeFree 20368557 Detail
<0.001 Astrocytoma In addition, SNPs rs10464870 and rs891835 in CCDC26 were associated with an incr... BeFree 26014354 Detail
Annotation

Annotations

DescrptionSourceLinks
We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 ... DisGeNET Detail
In addition, SNPs rs10464870 and rs891835 in CCDC26 were associated with an increased risk of non-as... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10464870 dbSNP
Genome
hg38
Position
chr8:129,465,577-129,465,577
Variant Type
snv
Reference Allele
C
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))
rs10464870
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8126
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13620
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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