chr6:161187984:T>C Detail (hg38) (AGPAT4)

Information

Genome

Assembly Position
hg19 chr6:161,609,016-161,609,016 View the variant detail on this assembly version.
hg38 chr6:161,187,984-161,187,984

HGVS

Type Transcript Protein
RefSeq NM_020133.2:c.179-21567A>G
Ensemble ENST00000320285.9:c.179-21567A>G
ENST00000366905.3:c.179-21567A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.259
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 614795 OMIM
HGNC 20885 HGNC
Ensembl ENSG00000026652 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27728001 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
0.080 post-traumatic stress disorder Using q-value analysis for multiplicity correction, we found significant interac... BeFree 17570738 Detail
<0.001 post-traumatic stress disorder Using q-value analysis for multiplicity correction, we found significant interac... BeFree 17570738 Detail
Annotation

Annotations

DescrptionSourceLinks
Using q-value analysis for multiplicity correction, we found significant interactions between lithiu... DisGeNET Detail
Using q-value analysis for multiplicity correction, we found significant interactions between lithiu... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2064721 dbSNP
Genome
hg38
Position
chr6:161,187,984-161,187,984
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2064721
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2594
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4347
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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