chr15:26774621:A>G Detail (hg38) (GABRB3)

Information

Genome

Assembly Position
hg19 chr15:27,019,768-27,019,768 View the variant detail on this assembly version.
hg38 chr15:26,774,621-26,774,621

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000541819.6:c.249-1849T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.355
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 137192 OMIM
HGNC 4083 HGNC
Ensembl ENSG00000166206 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52332789 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
0.003 Epilepsy, Generalized Allelic associations with generalized epilepsies have been reported for single n... BeFree 22082659 Detail
<0.001 absence epilepsy Mutation screening and linkage disequilibrium mapping of the gene encoding the G... BeFree 17215107 Detail
0.003 Epilepsy, Temporal Lobe The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients w... BeFree 22082659 Detail
<0.001 depressive disorder The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients w... BeFree 22082659 Detail
<0.001 Mental Depression The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients w... BeFree 22082659 Detail
0.133 absence epilepsy Our study failed to replicate an association of the common GABRB3 exon 1a promot... BeFree 17215107 Detail
Annotation

Annotations

DescrptionSourceLinks
Allelic associations with generalized epilepsies have been reported for single nucleotide polymorphi... DisGeNET Detail
Mutation screening and linkage disequilibrium mapping of the gene encoding the GABA(A) beta(3) subun... DisGeNET Detail
The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients with depression; indi... DisGeNET Detail
The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients with depression; indi... DisGeNET Detail
The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients with depression; indi... DisGeNET Detail
Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 wit... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4906902 dbSNP
Genome
hg38
Position
chr15:26,774,621-26,774,621
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs4906902
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3548
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5946
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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