chr6:32389648:A>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr6:32,389,648-32,389,648
hg38 chr6:32,421,871-32,421,871 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.311
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
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
<0.001 liver cirrhosis Multiple logistic regression analysis revealed that rs3135363, rs910049, and HLA... BeFree 23321320 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
Multiple logistic regression analysis revealed that rs3135363, rs910049, and HLA-DQA1(*)0601 were in... DisGeNET Detail
Gene
-
dbSNP
rs3135363 dbSNP
Genome
hg19
Position
chr6:32,389,648-32,389,648
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))
rs3135363
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3113
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5217
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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