chr6:32368410:T>C Detail (hg38) (TSBP1)

Information

Genome

Assembly Position
hg19 chr6:32,336,187-32,336,187 View the variant detail on this assembly version.
hg38 chr6:32,368,410-32,368,410

HGVS

Type Transcript Protein
RefSeq NM_006781.4:c.133+372A>G
NM_001286475.1:c.133+372A>G
NM_001286474.1:c.133+372A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.985
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 tgv24825386 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
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
0.127 multiple sclerosis A genome-wide association study in progressive multiple sclerosis. GWASCAT 22457343 Detail
0.127 multiple sclerosis [Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a poo... GAD 18941528 Detail
0.127 multiple sclerosis Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pool... GWASCAT 18941528 Detail
0.127 multiple sclerosis [We have confirmed the established association with the HLA region and, despite ... GAD 22457343 Detail
Annotation

Annotations

DescrptionSourceLinks
[Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for ... DisGeNET Detail
A genome-wide association study in progressive multiple sclerosis. DisGeNET Detail
[Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan... DisGeNET Detail
Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan ... DisGeNET Detail
[We have confirmed the established association with the HLA region and, despite the low statistical ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3129934 dbSNP
Genome
hg38
Position
chr6:32,368,410-32,368,410
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))
rs3129934
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9853
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16514
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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