chr15:78510819:G>T Detail (hg19) (ACSBG1)

Information

Genome

Assembly Position
hg19 chr15:78,510,819-78,510,819
hg38 chr15:78,218,477-78,218,477 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001199377.1:c.132-10375C>A
NM_015162.4:c.132-10375C>A
Ensemble ENST00000258873.9:c.132-10375C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.164
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 614362 OMIM
HGNC 29567 HGNC
Ensembl ENSG00000103740 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53641632 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 Behcet Syndrome [Genome-wide association study identifies variants in the MHC class I, IL10, and... GAD 20622878 Detail
Annotation

Annotations

DescrptionSourceLinks
[Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regio... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11072744 dbSNP
Genome
hg19
Position
chr15:78,510,819-78,510,819
Variant Type
snv
Reference Allele
G
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))
rs11072744
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.164
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2749
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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