chr9:34737831:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr9:34,737,828-34,737,828 View the variant detail on this assembly version.
hg38 chr9:34,737,831-34,737,831

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.979
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 diabetes mellitus Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... BeFree 26320593 Detail
<0.001 diabetes mellitus Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... BeFree 26320593 Detail
<0.001 Adult type dermatomyositis Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... BeFree 26320593 Detail
<0.001 dermatomyositis Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... BeFree 26320593 Detail
<0.001 Adult type dermatomyositis Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... BeFree 26320593 Detail
0.003 dermatomyositis Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... BeFree 26320593 Detail
<0.001 diabetes mellitus Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... BeFree 26320593 Detail
<0.001 polymyositis Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... BeFree 26320593 Detail
<0.001 polymyositis Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... BeFree 26320593 Detail
Annotation

Annotations

DescrptionSourceLinks
Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... DisGeNET Detail
Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... DisGeNET Detail
Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... DisGeNET Detail
Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... DisGeNET Detail
Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... DisGeNET Detail
Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... DisGeNET Detail
Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... DisGeNET Detail
Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... DisGeNET Detail
Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... DisGeNET Detail
Gene
-
dbSNP
rs2492358 dbSNP
Genome
hg38
Position
chr9:34,737,831-34,737,831
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))
rs2492358
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.979
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16408
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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