chr3:52218953:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr3:52,252,969-52,252,969 View the variant detail on this assembly version.
hg38 chr3:52,218,953-52,218,953

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.508
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.021 Septicemia Both rs187084 and rs352162 were significantly associated with TNF-α production b... BeFree 21633947 Detail
0.286 Sepsis Both rs187084 and rs352162 were significantly associated with TNF-α production b... BeFree 21633947 Detail
Annotation

Annotations

DescrptionSourceLinks
Both rs187084 and rs352162 were significantly associated with TNF-α production by peripheral blood l... DisGeNET Detail
Both rs187084 and rs352162 were significantly associated with TNF-α production by peripheral blood l... DisGeNET Detail
Gene
-
dbSNP
rs352162 dbSNP
Genome
hg38
Position
chr3:52,218,953-52,218,953
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))
rs352162
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5076
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8508
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser