chr3:54077256:A>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr3:54,077,256-54,077,256
hg38 chr3:54,043,229-54,043,229 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.467
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
<0.001 pneumonia Four risk single-nucleotide polymorphisms were significantly (p&lt;0.0001) assoc... BeFree 21737555 Detail
<0.001 pneumonia Four risk single-nucleotide polymorphisms were significantly (p&lt;0.0001) assoc... BeFree 21737555 Detail
Annotation

Annotations

DescrptionSourceLinks
Four risk single-nucleotide polymorphisms were significantly (p&lt;0.0001) associated with severe pn... DisGeNET Detail
Four risk single-nucleotide polymorphisms were significantly (p&lt;0.0001) associated with severe pn... DisGeNET Detail
Gene
-
dbSNP
rs9856661 dbSNP
Genome
hg19
Position
chr3:54,077,256-54,077,256
Variant Type
snv
Reference Allele
A
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))
rs9856661
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4672
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7830
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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