chr6:31870856:C>T Detail (hg19) (C2)

Information

Genome

Assembly Position
hg19 chr6:31,870,856-31,870,856
hg38 chr6:31,903,079-31,903,079 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001178063.2:c.73+1940C>T
NM_001282457.1:c.-64+5137C>T
Ensemble ENST00000452323.7:c.73+1940C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 613927 OMIM
HGNC 1248 HGNC
Ensembl ENSG00000166278 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24802806 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
0.251 Hepatitis B, Chronic These appear to implicate HLA-DR [rs3135363; P= 6.53 × 10(-22); odds ratio (OR) ... BeFree 21764829 Detail
Annotation

Annotations

DescrptionSourceLinks
These appear to implicate HLA-DR [rs3135363; P= 6.53 × 10(-22); odds ratio (OR) = 1.53, 95% confiden... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9267665 dbSNP
Genome
hg19
Position
chr6:31,870,856-31,870,856
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))
rs9267665
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0007
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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