chr5:161329618:A>G Detail (hg38) (GABRB2)

Information

Genome

Assembly Position
hg19 chr5:160,756,625-160,756,625 View the variant detail on this assembly version.
hg38 chr5:161,329,618-161,329,618

HGVS

Type Transcript Protein
RefSeq NM_000813.2:c.1077+1265T>C
NM_021911.2:c.1077+1265T>C
Ensemble ENST00000274547.7:c.1077+1265T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.176
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 600232 OMIM
HGNC 4082 HGNC
Ensembl ENSG00000145864 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23504536 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
0.152 schizophrenia Five SNPs in GABRB2, namely B2I7G1584T, rs1816071, rs194072, rs252944 and rs1872... BeFree 14699426 Detail
0.152 schizophrenia Using the multifactor-dimensionality reduction method (MDR), we found that the i... BeFree 17412563 Detail
0.134 schizophrenia Using the multifactor-dimensionality reduction method (MDR), we found that the i... BeFree 17412563 Detail
Annotation

Annotations

DescrptionSourceLinks
Five SNPs in GABRB2, namely B2I7G1584T, rs1816071, rs194072, rs252944 and rs187269, were found to be... DisGeNET Detail
Using the multifactor-dimensionality reduction method (MDR), we found that the interactions among th... DisGeNET Detail
Using the multifactor-dimensionality reduction method (MDR), we found that the interactions among th... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs187269 dbSNP
Genome
hg38
Position
chr5:161,329,618-161,329,618
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))
rs187269
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.176
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2949
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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