chr4:56290220:A>G Detail (hg19) (TMEM165)

Information

Genome

Assembly Position
hg19 chr4:56,290,220-56,290,220
hg38 chr4:55,424,053-55,424,053 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_018475.4:c.793-485A>G
Ensemble ENST00000381334.10:c.793-485A>G
ENST00000506198.5:c.208-485A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.990
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 614726 OMIM
HGNC 30760 HGNC
Ensembl ENSG00000134851 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv17055166 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
0.005 bipolar disorder A multi-locus interaction between rs6442925 in the 5' upstream of BHLHB2, rs1534... BeFree 18228528 Detail
Annotation

Annotations

DescrptionSourceLinks
A multi-locus interaction between rs6442925 in the 5' upstream of BHLHB2, rs1534891 in CSNK1E, and r... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs534654 dbSNP
Genome
hg19
Position
chr4:56,290,220-56,290,220
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))
rs534654
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9902
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16595
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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