chr6:32368989:A>G Detail (hg38) (TSBP1)

Information

Genome

Assembly Position
hg19 chr6:32,336,766-32,336,766 View the variant detail on this assembly version.
hg38 chr6:32,368,989-32,368,989

HGVS

Type Transcript Protein
RefSeq NM_006781.4:c.101-175T>C
NM_001286475.1:c.101-175T>C
NM_001286474.1:c.101-175T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.115
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 tgv24825419 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
0.120 Idiopathic Membranous Glomerulonephritis Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. GWASCAT 21323541 Detail
Annotation

Annotations

DescrptionSourceLinks
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3129939 dbSNP
Genome
hg38
Position
chr6:32,368,989-32,368,989
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs3129939
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1147
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1923
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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