chr8:20049524:G>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr8:20,049,524-20,049,524
hg38 chr8:20,192,013-20,192,013 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:0.667
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 anorexia nervosa Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 osteochondritis dissecans Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 osteochondritis dissecans Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 obsessive-compulsive disorder Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 anorexia nervosa Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 obsessive-compulsive disorder Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 anorexia nervosa Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 obsessive-compulsive disorder Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
0.001 obsessive-compulsive disorder Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 osteochondritis dissecans Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 osteochondritis dissecans Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
Annotation

Annotations

DescrptionSourceLinks
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Gene
-
dbSNP
rs11783752 dbSNP
Genome
hg19
Position
chr8:20,049,524-20,049,524
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs11783752
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6672
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11182
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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