chr6:32347950:T>C Detail (hg38) (TSBP1)

Information

Genome

Assembly Position
hg19 chr6:32,315,727-32,315,727 View the variant detail on this assembly version.
hg38 chr6:32,347,950-32,347,950

HGVS

Type Transcript Protein
RefSeq NM_006781.4:c.349+1790A>G
NM_001286475.1:c.259+1790A>G
NM_001286474.1:c.280+1790A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.875
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 tgv24824824 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
0.007 Diabetes Mellitus, Insulin-Dependent NA GAD Detail
0.127 multiple sclerosis [Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritab... GAD 17660530 Detail
<0.001 liver cirrhosis Multiple logistic regression analysis revealed that rs3135363, rs910049, and HLA... BeFree 23321320 Detail
0.120 Biliary Cirrhosis, Secondary A genome-wide association study of HCV-induced liver cirrhosis in the Japanese p... GWASCAT 23321320 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
[Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for ... DisGeNET Detail
Multiple logistic regression analysis revealed that rs3135363, rs910049, and HLA-DQA1(*)0601 were in... DisGeNET Detail
A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs910049 dbSNP
Genome
hg38
Position
chr6:32,347,950-32,347,950
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))
rs910049
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8752
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14669
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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