chr6:31538244:C>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr6:31,538,244-31,538,244
hg38 chr6:31,570,467-31,570,467 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:0.161
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided primary biliary cirrhosis not provided MGS000045
(TMGS000098) 		Olivier Gervais Kyoto University
not provided biliary cirrhosis, primary not provided MGS000089
(TMGS000168) 		Minoru Nakamura
Minoru Nakamura		 National Hospital Organization Nagasaki Medical Center
National Hospital Organization Nagasaki Medical Center
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 Behcet Syndrome [Genome-wide association study identifies variants in the MHC class I, IL10, and... GAD 20622878 Detail
Annotation

Annotations

DescrptionSourceLinks
[Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regio... DisGeNET Detail
Gene
-
dbSNP
rs2009658 dbSNP
Genome
hg19
Position
chr6:31,538,244-31,538,244
Variant Type
snv
Reference Allele
C
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))
rs2009658
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1606
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2692
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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