chr6:32325835:C>T Detail (hg19) (TSBP1)

Information

Genome

Assembly Position
hg19 chr6:32,325,835-32,325,835
hg38 chr6:32,358,058-32,358,058 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006781.4:c.218-2389G>A
NM_001286475.1:c.197-2389G>A
NM_001286474.1:c.218-2389G>A
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 tgv24825056 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
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
rs2894249 dbSNP
Genome
hg19
Position
chr6:32,325,835-32,325,835
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))
rs2894249
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9847
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16503
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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