chr4:144564586:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr4:145,485,738-145,485,738 View the variant detail on this assembly version.
hg38 chr4:144,564,586-144,564,586

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.338
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
0.005 Pulmonary function (finding) [Meta-analyses of genome-wide association studies identify multiple loci associa... GAD 20010835 Detail
<0.001 pulmonary emphysema We found strong genetic associations between the mild upper zone emphysema group... BeFree 24563194 Detail
Annotation

Annotations

DescrptionSourceLinks
[Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary f... DisGeNET Detail
We found strong genetic associations between the mild upper zone emphysema group and rs1980057 near ... DisGeNET Detail
Gene
-
dbSNP
rs1980057 dbSNP
Genome
hg38
Position
chr4:144,564,586-144,564,586
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1980057
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3376
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5658
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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