chr6:32115523:A>G Detail (hg38) (ATF6B)

Information

Genome

Assembly Position
hg19 chr6:32,083,300-32,083,300 View the variant detail on this assembly version.
hg38 chr6:32,115,523-32,115,523

HGVS

Type Transcript Protein
RefSeq NM_001136153.1:c.*216T>C
NM_004381.4:c.*216T>C
Ensemble ENST00000375201.8:c.*216T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.278
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 600984 OMIM
HGNC 2349 HGNC
Ensembl ENSG00000213676 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24814707 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
0.004 schizophrenia The TDT analysis demonstrated that of the nine SNPs, three were associated with ... BeFree 14755442 Detail
0.003 Lupus Erythematosus, Systemic Sequential removal of SLE-associated DRB1 haplotypes revealed independent effect... BeFree 19851445 Detail
0.010 Lupus Erythematosus, Systemic Sequential removal of SLE-associated DRB1 haplotypes revealed independent effect... BeFree 19851445 Detail
0.003 Lupus Erythematosus, Systemic Sequential removal of SLE-associated DRB1 haplotypes revealed independent effect... BeFree 19851445 Detail
Annotation

Annotations

DescrptionSourceLinks
The TDT analysis demonstrated that of the nine SNPs, three were associated with schizophrenia, inclu... DisGeNET Detail
Sequential removal of SLE-associated DRB1 haplotypes revealed independent effects due to variation w... DisGeNET Detail
Sequential removal of SLE-associated DRB1 haplotypes revealed independent effects due to variation w... DisGeNET Detail
Sequential removal of SLE-associated DRB1 haplotypes revealed independent effects due to variation w... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs8283 dbSNP
Genome
hg38
Position
chr6:32,115,523-32,115,523
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))
rs8283
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2779
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4658
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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