chr6:32273158:G>C Detail (hg19) (TSBP1)

Information

Genome

Assembly Position
hg19 chr6:32,273,158-32,273,158
hg38 chr6:32,305,381-32,305,381 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001286475.1:c.533-2752C>G
NM_006781.4:c.581-2752C>G
NM_001286474.1:c.575-2752C>G
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 1
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.316
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
Type Database ID Link
Gene MIM 618151 OMIM
HGNC 13922 HGNC
Ensembl ENSG00000204296 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24823522 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
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
0.127 multiple sclerosis [Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritab... GAD 17660530 Detail
Annotation

Annotations

DescrptionSourceLinks
[Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs544358 dbSNP
Genome
hg19
Position
chr6:32,273,158-32,273,158
Variant Type
snv
Reference Allele
G
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))
rs544358
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3157
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5291
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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