chr8:63477322:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr8:64,389,880-64,389,880 View the variant detail on this assembly version.
hg38 chr8:63,477,322-63,477,322

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.988
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
<0.001 Autoimmune Diseases Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.010 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.002 Autoimmune Diseases Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 Autoimmune Diseases Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
Annotation

Annotations

DescrptionSourceLinks
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12115114 dbSNP
Genome
hg38
Position
chr8:63,477,322-63,477,322
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))
rs12115114
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9876
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16552
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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