chr6:32663631:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr6:32,663,631-32,663,631
hg38 chr6:32,695,854-32,695,854 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:0.853
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
0.005 hypothyroidism [Novel associations for hypothyroidism include known autoimmune risk loci.] GAD 22493691 Detail
0.008 leprosy NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
[Novel associations for hypothyroidism include known autoimmune risk loci.] DisGeNET Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs3129720 dbSNP
Genome
hg19
Position
chr6:32,663,631-32,663,631
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs3129720
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.853
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14296
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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