chr11:76559639:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr11:76,270,683-76,270,683 View the variant detail on this assembly version.
hg38 chr11:76,559,639-76,559,639

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.058
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 asthma Two loci were confirmed to associate with asthma risk in the replication cohorts... BeFree 21907864 Detail
0.003 asthma [The IL6R association further supports the hypothesis that cytokine signalling d... GAD 21907864 Detail
Annotation

Annotations

DescrptionSourceLinks
Two loci were confirmed to associate with asthma risk in the replication cohorts and reached genome-... DisGeNET Detail
[The IL6R association further supports the hypothesis that cytokine signalling dysregulation affects... DisGeNET Detail
Gene
-
dbSNP
rs7130588 dbSNP
Genome
hg38
Position
chr11:76,559,639-76,559,639
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))
rs7130588
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0576
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
965
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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