chr17:55977164:A>C Detail (hg38) (ANKFN1)

Information

Genome

Assembly Position
hg19 chr17:54,054,525-54,054,525 View the variant detail on this assembly version.
hg38 chr17:55,977,164-55,977,164

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000635860.2:c.34+11488A>C
ENST00000653862.1:c.208+11488A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.048
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 620853 OMIM
HGNC 26766 HGNC
Ensembl ENSG00000153930 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv58177861 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
<0.001 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

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17758761 dbSNP
Genome
hg38
Position
chr17:55,977,164-55,977,164
Variant Type
snv
Reference Allele
A
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))
rs17758761
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0482
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
808
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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